The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in inframe deletion located in a non-repeat region and is predicted to change the length of the protein and disrupt normal protein function. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000055355). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(16)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic/Likely pathogenic
16
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
Variation ID: 55355 Accession: VCV000055355.37
- Type and length
-
Microsatellite, 3 bp
- Location
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Cytogenetic: 17q21.31 17: 43067663-43067665 (GRCh38) [ NCBI UCSC ] 17: 41219680-41219682 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Sep 16, 2024 Jun 27, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5014CAC[1] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.His1673del inframe deletion NM_007294.4:c.5017_5019del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
inframe deletion NM_007294.4:c.5017_5019delCAC MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_001407571.1:c.4801_4803CAC[1] NP_001394500.1:p.His1602del inframe indel NM_001407581.1:c.5080_5082CAC[1] NP_001394510.1:p.His1695del inframe indel NM_001407582.1:c.5080_5082CAC[1] NP_001394511.1:p.His1695del inframe indel NM_001407583.1:c.5077_5079CAC[1] NP_001394512.1:p.His1694del inframe indel NM_001407585.1:c.5077_5079CAC[1] NP_001394514.1:p.His1694del inframe indel NM_001407587.1:c.5077_5079CAC[1] NP_001394516.1:p.His1694del inframe indel NM_001407590.1:c.5074_5076CAC[1] NP_001394519.1:p.His1693del inframe indel NM_001407591.1:c.5074_5076CAC[1] NP_001394520.1:p.His1693del inframe indel NM_001407593.1:c.5014_5016CAC[1] NP_001394522.1:p.His1673del inframe indel NM_001407594.1:c.5014_5016CAC[1] NP_001394523.1:p.His1673del inframe indel NM_001407596.1:c.5014_5016CAC[1] NP_001394525.1:p.His1673del inframe indel NM_001407597.1:c.5014_5016CAC[1] NP_001394526.1:p.His1673del inframe indel NM_001407598.1:c.5014_5016CAC[1] NP_001394527.1:p.His1673del inframe indel NM_001407602.1:c.5014_5016CAC[1] NP_001394531.1:p.His1673del inframe indel NM_001407603.1:c.5014_5016CAC[1] NP_001394532.1:p.His1673del inframe indel NM_001407605.1:c.5014_5016CAC[1] NP_001394534.1:p.His1673del inframe indel NM_001407610.1:c.5011_5013CAC[1] NP_001394539.1:p.His1672del inframe indel NM_001407611.1:c.5011_5013CAC[1] NP_001394540.1:p.His1672del inframe indel NM_001407612.1:c.5011_5013CAC[1] NP_001394541.1:p.His1672del inframe indel NM_001407613.1:c.5011_5013CAC[1] NP_001394542.1:p.His1672del inframe indel NM_001407614.1:c.5011_5013CAC[1] NP_001394543.1:p.His1672del inframe indel NM_001407615.1:c.5011_5013CAC[1] NP_001394544.1:p.His1672del inframe indel NM_001407616.1:c.5011_5013CAC[1] NP_001394545.1:p.His1672del inframe indel NM_001407617.1:c.5011_5013CAC[1] NP_001394546.1:p.His1672del inframe indel NM_001407618.1:c.5011_5013CAC[1] NP_001394547.1:p.His1672del inframe indel NM_001407619.1:c.5011_5013CAC[1] NP_001394548.1:p.His1672del inframe indel NM_001407620.1:c.5011_5013CAC[1] NP_001394549.1:p.His1672del inframe indel NM_001407621.1:c.5011_5013CAC[1] NP_001394550.1:p.His1672del inframe indel NM_001407622.1:c.5011_5013CAC[1] NP_001394551.1:p.His1672del inframe indel NM_001407623.1:c.5011_5013CAC[1] NP_001394552.1:p.His1672del inframe indel NM_001407624.1:c.5011_5013CAC[1] NP_001394553.1:p.His1672del inframe indel NM_001407625.1:c.5011_5013CAC[1] NP_001394554.1:p.His1672del inframe indel NM_001407626.1:c.5011_5013CAC[1] NP_001394555.1:p.His1672del inframe indel NM_001407627.1:c.5008_5010CAC[1] NP_001394556.1:p.His1671del inframe indel NM_001407628.1:c.5008_5010CAC[1] NP_001394557.1:p.His1671del inframe indel NM_001407629.1:c.5008_5010CAC[1] NP_001394558.1:p.His1671del inframe indel NM_001407630.1:c.5008_5010CAC[1] NP_001394559.1:p.His1671del inframe indel NM_001407631.1:c.5008_5010CAC[1] NP_001394560.1:p.His1671del inframe indel NM_001407632.1:c.5008_5010CAC[1] NP_001394561.1:p.His1671del inframe indel NM_001407633.1:c.5008_5010CAC[1] NP_001394562.1:p.His1671del inframe indel NM_001407634.1:c.5008_5010CAC[1] NP_001394563.1:p.His1671del inframe indel NM_001407635.1:c.5008_5010CAC[1] NP_001394564.1:p.His1671del inframe indel NM_001407636.1:c.5008_5010CAC[1] NP_001394565.1:p.His1671del inframe indel NM_001407637.1:c.5008_5010CAC[1] NP_001394566.1:p.His1671del inframe indel NM_001407638.1:c.5008_5010CAC[1] NP_001394567.1:p.His1671del inframe indel NM_001407639.1:c.5008_5010CAC[1] NP_001394568.1:p.His1671del inframe indel NM_001407640.1:c.5008_5010CAC[1] NP_001394569.1:p.His1671del inframe indel NM_001407641.1:c.5008_5010CAC[1] NP_001394570.1:p.His1671del inframe indel NM_001407642.1:c.5008_5010CAC[1] NP_001394571.1:p.His1671del inframe indel NM_001407644.1:c.5005_5007CAC[1] NP_001394573.1:p.His1670del inframe indel NM_001407645.1:c.5005_5007CAC[1] NP_001394574.1:p.His1670del inframe indel NM_001407646.1:c.5002_5004CAC[1] NP_001394575.1:p.His1669del inframe indel NM_001407647.1:c.4999_5001CAC[1] NP_001394576.1:p.His1668del inframe indel NM_001407648.1:c.4957_4959CAC[1] NP_001394577.1:p.His1654del inframe indel NM_001407649.1:c.4954_4956CAC[1] NP_001394578.1:p.His1653del inframe indel NM_001407652.1:c.5014_5016CAC[1] NP_001394581.1:p.His1673del inframe indel NM_001407653.1:c.4936_4938CAC[1] NP_001394582.1:p.His1647del inframe indel NM_001407654.1:c.4936_4938CAC[1] NP_001394583.1:p.His1647del inframe indel NM_001407655.1:c.4936_4938CAC[1] NP_001394584.1:p.His1647del inframe indel NM_001407656.1:c.4933_4935CAC[1] NP_001394585.1:p.His1646del inframe indel NM_001407657.1:c.4933_4935CAC[1] NP_001394586.1:p.His1646del inframe indel NM_001407658.1:c.4933_4935CAC[1] NP_001394587.1:p.His1646del inframe indel NM_001407659.1:c.4930_4932CAC[1] NP_001394588.1:p.His1645del inframe indel NM_001407660.1:c.4930_4932CAC[1] NP_001394589.1:p.His1645del inframe indel NM_001407661.1:c.4930_4932CAC[1] NP_001394590.1:p.His1645del inframe indel NM_001407662.1:c.4930_4932CAC[1] NP_001394591.1:p.His1645del inframe indel NM_001407663.1:c.4930_4932CAC[1] NP_001394592.1:p.His1645del inframe indel NM_001407664.1:c.4891_4893CAC[1] NP_001394593.1:p.His1632del inframe indel NM_001407665.1:c.4891_4893CAC[1] NP_001394594.1:p.His1632del inframe indel NM_001407666.1:c.4891_4893CAC[1] NP_001394595.1:p.His1632del inframe indel NM_001407667.1:c.4891_4893CAC[1] NP_001394596.1:p.His1632del inframe indel NM_001407668.1:c.4891_4893CAC[1] NP_001394597.1:p.His1632del inframe indel NM_001407669.1:c.4891_4893CAC[1] NP_001394598.1:p.His1632del inframe indel NM_001407670.1:c.4888_4890CAC[1] NP_001394599.1:p.His1631del inframe indel NM_001407671.1:c.4888_4890CAC[1] NP_001394600.1:p.His1631del inframe indel NM_001407672.1:c.4888_4890CAC[1] NP_001394601.1:p.His1631del inframe indel NM_001407673.1:c.4888_4890CAC[1] NP_001394602.1:p.His1631del inframe indel NM_001407674.1:c.4888_4890CAC[1] NP_001394603.1:p.His1631del inframe indel NM_001407675.1:c.4888_4890CAC[1] NP_001394604.1:p.His1631del inframe indel NM_001407676.1:c.4888_4890CAC[1] NP_001394605.1:p.His1631del inframe indel NM_001407677.1:c.4888_4890CAC[1] NP_001394606.1:p.His1631del inframe indel NM_001407678.1:c.4888_4890CAC[1] NP_001394607.1:p.His1631del inframe indel NM_001407679.1:c.4888_4890CAC[1] NP_001394608.1:p.His1631del inframe indel NM_001407680.1:c.4888_4890CAC[1] NP_001394609.1:p.His1631del inframe indel NM_001407681.1:c.4885_4887CAC[1] NP_001394610.1:p.His1630del inframe indel NM_001407682.1:c.4885_4887CAC[1] NP_001394611.1:p.His1630del inframe indel NM_001407683.1:c.4885_4887CAC[1] NP_001394612.1:p.His1630del inframe indel NM_001407684.1:c.5014_5016CAC[1] NP_001394613.1:p.His1673del inframe indel NM_001407685.1:c.4885_4887CAC[1] NP_001394614.1:p.His1630del inframe indel NM_001407686.1:c.4885_4887CAC[1] NP_001394615.1:p.His1630del inframe indel NM_001407687.1:c.4885_4887CAC[1] NP_001394616.1:p.His1630del inframe indel NM_001407688.1:c.4885_4887CAC[1] NP_001394617.1:p.His1630del inframe indel NM_001407689.1:c.4885_4887CAC[1] NP_001394618.1:p.His1630del inframe indel NM_001407690.1:c.4882_4884CAC[1] NP_001394619.1:p.His1629del inframe indel NM_001407691.1:c.4882_4884CAC[1] NP_001394620.1:p.His1629del inframe indel NM_001407692.1:c.4873_4875CAC[1] NP_001394621.1:p.His1626del inframe indel NM_001407694.1:c.4873_4875CAC[1] NP_001394623.1:p.His1626del inframe indel NM_001407695.1:c.4873_4875CAC[1] NP_001394624.1:p.His1626del inframe indel NM_001407696.1:c.4873_4875CAC[1] NP_001394625.1:p.His1626del inframe indel NM_001407697.1:c.4873_4875CAC[1] NP_001394626.1:p.His1626del inframe indel NM_001407698.1:c.4873_4875CAC[1] NP_001394627.1:p.His1626del inframe indel NM_001407724.1:c.4873_4875CAC[1] NP_001394653.1:p.His1626del inframe indel NM_001407725.1:c.4873_4875CAC[1] NP_001394654.1:p.His1626del inframe indel NM_001407726.1:c.4873_4875CAC[1] NP_001394655.1:p.His1626del inframe indel NM_001407727.1:c.4873_4875CAC[1] NP_001394656.1:p.His1626del inframe indel NM_001407728.1:c.4873_4875CAC[1] NP_001394657.1:p.His1626del inframe indel NM_001407729.1:c.4873_4875CAC[1] NP_001394658.1:p.His1626del inframe indel NM_001407730.1:c.4873_4875CAC[1] NP_001394659.1:p.His1626del inframe indel NM_001407731.1:c.4873_4875CAC[1] NP_001394660.1:p.His1626del inframe indel NM_001407732.1:c.4870_4872CAC[1] NP_001394661.1:p.His1625del inframe indel NM_001407733.1:c.4870_4872CAC[1] NP_001394662.1:p.His1625del inframe indel NM_001407734.1:c.4870_4872CAC[1] NP_001394663.1:p.His1625del inframe indel NM_001407735.1:c.4870_4872CAC[1] NP_001394664.1:p.His1625del inframe indel NM_001407736.1:c.4870_4872CAC[1] NP_001394665.1:p.His1625del inframe indel NM_001407737.1:c.4870_4872CAC[1] NP_001394666.1:p.His1625del inframe indel NM_001407738.1:c.4870_4872CAC[1] NP_001394667.1:p.His1625del inframe indel NM_001407739.1:c.4870_4872CAC[1] NP_001394668.1:p.His1625del inframe indel NM_001407740.1:c.4870_4872CAC[1] NP_001394669.1:p.His1625del inframe indel NM_001407741.1:c.4870_4872CAC[1] NP_001394670.1:p.His1625del inframe indel NM_001407742.1:c.4870_4872CAC[1] NP_001394671.1:p.His1625del inframe indel NM_001407743.1:c.4870_4872CAC[1] NP_001394672.1:p.His1625del inframe indel NM_001407744.1:c.4870_4872CAC[1] NP_001394673.1:p.His1625del inframe indel NM_001407745.1:c.4870_4872CAC[1] NP_001394674.1:p.His1625del inframe indel NM_001407746.1:c.4870_4872CAC[1] NP_001394675.1:p.His1625del inframe indel NM_001407747.1:c.4870_4872CAC[1] NP_001394676.1:p.His1625del inframe indel NM_001407748.1:c.4870_4872CAC[1] NP_001394677.1:p.His1625del inframe indel NM_001407749.1:c.4870_4872CAC[1] NP_001394678.1:p.His1625del inframe indel NM_001407750.1:c.4870_4872CAC[1] NP_001394679.1:p.His1625del inframe indel NM_001407751.1:c.4870_4872CAC[1] NP_001394680.1:p.His1625del inframe indel NM_001407752.1:c.4870_4872CAC[1] NP_001394681.1:p.His1625del inframe indel NM_001407838.1:c.4867_4869CAC[1] NP_001394767.1:p.His1624del inframe indel NM_001407839.1:c.4867_4869CAC[1] NP_001394768.1:p.His1624del inframe indel NM_001407841.1:c.4867_4869CAC[1] NP_001394770.1:p.His1624del inframe indel NM_001407842.1:c.4867_4869CAC[1] NP_001394771.1:p.His1624del inframe indel NM_001407843.1:c.4867_4869CAC[1] NP_001394772.1:p.His1624del inframe indel NM_001407844.1:c.4867_4869CAC[1] NP_001394773.1:p.His1624del inframe indel NM_001407845.1:c.4867_4869CAC[1] NP_001394774.1:p.His1624del inframe indel NM_001407846.1:c.4867_4869CAC[1] NP_001394775.1:p.His1624del inframe indel NM_001407847.1:c.4867_4869CAC[1] NP_001394776.1:p.His1624del inframe indel NM_001407848.1:c.4867_4869CAC[1] NP_001394777.1:p.His1624del inframe indel NM_001407849.1:c.4867_4869CAC[1] NP_001394778.1:p.His1624del inframe indel NM_001407850.1:c.4867_4869CAC[1] NP_001394779.1:p.His1624del inframe indel NM_001407851.1:c.4867_4869CAC[1] NP_001394780.1:p.His1624del inframe indel NM_001407852.1:c.4867_4869CAC[1] NP_001394781.1:p.His1624del inframe indel NM_001407853.1:c.4867_4869CAC[1] NP_001394782.1:p.His1624del inframe indel NM_001407854.1:c.5014_5016CAC[1] NP_001394783.1:p.His1673del inframe indel NM_001407858.1:c.5011_5013CAC[1] NP_001394787.1:p.His1672del inframe indel NM_001407859.1:c.5011_5013CAC[1] NP_001394788.1:p.His1672del inframe indel NM_001407860.1:c.5011_5013CAC[1] NP_001394789.1:p.His1672del inframe indel NM_001407861.1:c.5008_5010CAC[1] NP_001394790.1:p.His1671del inframe indel NM_001407862.1:c.4813_4815CAC[1] NP_001394791.1:p.His1606del inframe indel NM_001407863.1:c.4888_4890CAC[1] NP_001394792.1:p.His1631del inframe indel NM_001407874.1:c.4807_4809CAC[1] NP_001394803.1:p.His1604del inframe indel NM_001407875.1:c.4807_4809CAC[1] NP_001394804.1:p.His1604del inframe indel NM_001407879.1:c.4804_4806CAC[1] NP_001394808.1:p.His1603del inframe indel NM_001407881.1:c.4804_4806CAC[1] NP_001394810.1:p.His1603del inframe indel NM_001407882.1:c.4804_4806CAC[1] NP_001394811.1:p.His1603del inframe indel NM_001407884.1:c.4804_4806CAC[1] NP_001394813.1:p.His1603del inframe indel NM_001407885.1:c.4804_4806CAC[1] NP_001394814.1:p.His1603del inframe indel NM_001407886.1:c.4804_4806CAC[1] NP_001394815.1:p.His1603del inframe indel NM_001407887.1:c.4804_4806CAC[1] NP_001394816.1:p.His1603del inframe indel NM_001407889.1:c.4804_4806CAC[1] NP_001394818.1:p.His1603del inframe indel NM_001407894.1:c.4801_4803CAC[1] NP_001394823.1:p.His1602del inframe indel NM_001407895.1:c.4801_4803CAC[1] NP_001394824.1:p.His1602del inframe indel NM_001407896.1:c.4801_4803CAC[1] NP_001394825.1:p.His1602del inframe indel NM_001407897.1:c.4801_4803CAC[1] NP_001394826.1:p.His1602del inframe indel NM_001407898.1:c.4801_4803CAC[1] NP_001394827.1:p.His1602del inframe indel NM_001407899.1:c.4801_4803CAC[1] NP_001394828.1:p.His1602del inframe indel NM_001407900.1:c.4801_4803CAC[1] NP_001394829.1:p.His1602del inframe indel NM_001407902.1:c.4801_4803CAC[1] NP_001394831.1:p.His1602del inframe indel NM_001407904.1:c.4801_4803CAC[1] NP_001394833.1:p.His1602del inframe indel NM_001407906.1:c.4801_4803CAC[1] NP_001394835.1:p.His1602del inframe indel NM_001407907.1:c.4801_4803CAC[1] NP_001394836.1:p.His1602del inframe indel NM_001407908.1:c.4801_4803CAC[1] NP_001394837.1:p.His1602del inframe indel NM_001407909.1:c.4801_4803CAC[1] NP_001394838.1:p.His1602del inframe indel NM_001407910.1:c.4801_4803CAC[1] NP_001394839.1:p.His1602del inframe indel NM_001407915.1:c.4798_4800CAC[1] NP_001394844.1:p.His1601del inframe indel NM_001407916.1:c.4798_4800CAC[1] NP_001394845.1:p.His1601del inframe indel NM_001407917.1:c.4798_4800CAC[1] NP_001394846.1:p.His1601del inframe indel NM_001407918.1:c.4798_4800CAC[1] NP_001394847.1:p.His1601del inframe indel NM_001407919.1:c.4891_4893CAC[1] NP_001394848.1:p.His1632del inframe indel NM_001407920.1:c.4750_4752CAC[1] NP_001394849.1:p.His1585del inframe indel NM_001407921.1:c.4750_4752CAC[1] NP_001394850.1:p.His1585del inframe indel NM_001407922.1:c.4750_4752CAC[1] NP_001394851.1:p.His1585del inframe indel NM_001407923.1:c.4750_4752CAC[1] NP_001394852.1:p.His1585del inframe indel NM_001407924.1:c.4750_4752CAC[1] NP_001394853.1:p.His1585del inframe indel NM_001407925.1:c.4750_4752CAC[1] NP_001394854.1:p.His1585del inframe indel NM_001407926.1:c.4750_4752CAC[1] NP_001394855.1:p.His1585del inframe indel NM_001407927.1:c.4747_4749CAC[1] NP_001394856.1:p.His1584del inframe indel NM_001407928.1:c.4747_4749CAC[1] NP_001394857.1:p.His1584del inframe indel NM_001407929.1:c.4747_4749CAC[1] NP_001394858.1:p.His1584del inframe indel NM_001407930.1:c.4747_4749CAC[1] NP_001394859.1:p.His1584del inframe indel NM_001407931.1:c.4747_4749CAC[1] NP_001394860.1:p.His1584del inframe indel NM_001407932.1:c.4747_4749CAC[1] NP_001394861.1:p.His1584del inframe indel NM_001407933.1:c.4747_4749CAC[1] NP_001394862.1:p.His1584del inframe indel NM_001407934.1:c.4744_4746CAC[1] NP_001394863.1:p.His1583del inframe indel NM_001407935.1:c.4744_4746CAC[1] NP_001394864.1:p.His1583del inframe indel NM_001407936.1:c.4744_4746CAC[1] NP_001394865.1:p.His1583del inframe indel NM_001407937.1:c.4891_4893CAC[1] NP_001394866.1:p.His1632del inframe indel NM_001407938.1:c.4891_4893CAC[1] NP_001394867.1:p.His1632del inframe indel NM_001407939.1:c.4888_4890CAC[1] NP_001394868.1:p.His1631del inframe indel NM_001407940.1:c.4888_4890CAC[1] NP_001394869.1:p.His1631del inframe indel NM_001407941.1:c.4885_4887CAC[1] NP_001394870.1:p.His1630del inframe indel NM_001407942.1:c.4873_4875CAC[1] NP_001394871.1:p.His1626del inframe indel NM_001407943.1:c.4870_4872CAC[1] NP_001394872.1:p.His1625del inframe indel NM_001407944.1:c.4870_4872CAC[1] NP_001394873.1:p.His1625del inframe indel NM_001407945.1:c.4870_4872CAC[1] NP_001394874.1:p.His1625del inframe indel NM_001407946.1:c.4681_4683CAC[1] NP_001394875.1:p.His1562del inframe indel NM_001407947.1:c.4681_4683CAC[1] NP_001394876.1:p.His1562del inframe indel NM_001407948.1:c.4681_4683CAC[1] NP_001394877.1:p.His1562del inframe indel NM_001407949.1:c.4681_4683CAC[1] NP_001394878.1:p.His1562del inframe indel NM_001407950.1:c.4678_4680CAC[1] NP_001394879.1:p.His1561del inframe indel NM_001407951.1:c.4678_4680CAC[1] NP_001394880.1:p.His1561del inframe indel NM_001407952.1:c.4678_4680CAC[1] NP_001394881.1:p.His1561del inframe indel NM_001407953.1:c.4678_4680CAC[1] NP_001394882.1:p.His1561del inframe indel NM_001407954.1:c.4678_4680CAC[1] NP_001394883.1:p.His1561del inframe indel NM_001407955.1:c.4678_4680CAC[1] NP_001394884.1:p.His1561del inframe indel NM_001407956.1:c.4675_4677CAC[1] NP_001394885.1:p.His1560del inframe indel NM_001407957.1:c.4675_4677CAC[1] NP_001394886.1:p.His1560del inframe indel NM_001407958.1:c.4675_4677CAC[1] NP_001394887.1:p.His1560del inframe indel NM_001407959.1:c.4633_4635CAC[1] NP_001394888.1:p.His1546del inframe indel NM_001407960.1:c.4630_4632CAC[1] NP_001394889.1:p.His1545del inframe indel NM_001407962.1:c.4630_4632CAC[1] NP_001394891.1:p.His1545del inframe indel NM_001407963.1:c.4627_4629CAC[1] NP_001394892.1:p.His1544del inframe indel NM_001407964.1:c.4552_4554CAC[1] NP_001394893.1:p.His1519del inframe indel NM_001407965.1:c.4507_4509CAC[1] NP_001394894.1:p.His1504del inframe indel NM_001407966.1:c.4126_4128CAC[1] NP_001394895.1:p.His1377del inframe indel NM_001407967.1:c.4123_4125CAC[1] NP_001394896.1:p.His1376del inframe indel NM_001407968.1:c.2410_2412CAC[1] NP_001394897.1:p.His805del inframe indel NM_001407969.1:c.2407_2409CAC[1] NP_001394898.1:p.His804del inframe indel NM_001407970.1:c.1771_1773CAC[1] NP_001394899.1:p.His592del inframe indel NM_001407971.1:c.1771_1773CAC[1] NP_001394900.1:p.His592del inframe indel NM_001407972.1:c.1768_1770CAC[1] NP_001394901.1:p.His591del inframe indel NM_001407973.1:c.1705_1707CAC[1] NP_001394902.1:p.His570del inframe indel NM_001407974.1:c.1705_1707CAC[1] NP_001394903.1:p.His570del inframe indel NM_001407975.1:c.1705_1707CAC[1] NP_001394904.1:p.His570del inframe indel NM_001407976.1:c.1705_1707CAC[1] NP_001394905.1:p.His570del inframe indel NM_001407977.1:c.1705_1707CAC[1] NP_001394906.1:p.His570del inframe indel NM_001407978.1:c.1705_1707CAC[1] NP_001394907.1:p.His570del inframe indel NM_001407979.1:c.1702_1704CAC[1] NP_001394908.1:p.His569del inframe indel NM_001407980.1:c.1702_1704CAC[1] NP_001394909.1:p.His569del inframe indel NM_001407981.1:c.1702_1704CAC[1] NP_001394910.1:p.His569del inframe indel NM_001407982.1:c.1702_1704CAC[1] NP_001394911.1:p.His569del inframe indel NM_001407983.1:c.1702_1704CAC[1] NP_001394912.1:p.His569del inframe indel NM_001407984.1:c.1702_1704CAC[1] NP_001394913.1:p.His569del inframe indel NM_001407985.1:c.1702_1704CAC[1] NP_001394914.1:p.His569del inframe indel NM_001407986.1:c.1702_1704CAC[1] NP_001394915.1:p.His569del inframe indel NM_001407990.1:c.1702_1704CAC[1] NP_001394919.1:p.His569del inframe indel NM_001407991.1:c.1702_1704CAC[1] NP_001394920.1:p.His569del inframe indel NM_001407992.1:c.1702_1704CAC[1] NP_001394921.1:p.His569del inframe indel NM_001407993.1:c.1702_1704CAC[1] NP_001394922.1:p.His569del inframe indel NM_001408392.1:c.1699_1701CAC[1] NP_001395321.1:p.His568del inframe indel NM_001408396.1:c.1699_1701CAC[1] NP_001395325.1:p.His568del inframe indel NM_001408397.1:c.1699_1701CAC[1] NP_001395326.1:p.His568del inframe indel NM_001408398.1:c.1699_1701CAC[1] NP_001395327.1:p.His568del inframe indel NM_001408399.1:c.1699_1701CAC[1] NP_001395328.1:p.His568del inframe indel NM_001408400.1:c.1699_1701CAC[1] NP_001395329.1:p.His568del inframe indel NM_001408401.1:c.1699_1701CAC[1] NP_001395330.1:p.His568del inframe indel NM_001408402.1:c.1699_1701CAC[1] NP_001395331.1:p.His568del inframe indel NM_001408403.1:c.1699_1701CAC[1] NP_001395332.1:p.His568del inframe indel NM_001408404.1:c.1699_1701CAC[1] NP_001395333.1:p.His568del inframe indel NM_001408406.1:c.1696_1698CAC[1] NP_001395335.1:p.His567del inframe indel NM_001408407.1:c.1696_1698CAC[1] NP_001395336.1:p.His567del inframe indel NM_001408408.1:c.1696_1698CAC[1] NP_001395337.1:p.His567del inframe indel NM_001408409.1:c.1693_1695CAC[1] NP_001395338.1:p.His566del inframe indel NM_001408410.1:c.1630_1632CAC[1] NP_001395339.1:p.His545del inframe indel NM_001408411.1:c.1627_1629CAC[1] NP_001395340.1:p.His544del inframe indel NM_001408412.1:c.1624_1626CAC[1] NP_001395341.1:p.His543del inframe indel NM_001408413.1:c.1624_1626CAC[1] NP_001395342.1:p.His543del inframe indel NM_001408414.1:c.1624_1626CAC[1] NP_001395343.1:p.His543del inframe indel NM_001408415.1:c.1624_1626CAC[1] NP_001395344.1:p.His543del inframe indel NM_001408416.1:c.1624_1626CAC[1] NP_001395345.1:p.His543del inframe indel NM_001408418.1:c.1588_1590CAC[1] NP_001395347.1:p.His531del inframe indel NM_001408419.1:c.1588_1590CAC[1] NP_001395348.1:p.His531del inframe indel NM_001408420.1:c.1588_1590CAC[1] NP_001395349.1:p.His531del inframe indel NM_001408421.1:c.1585_1587CAC[1] NP_001395350.1:p.His530del inframe indel NM_001408422.1:c.1585_1587CAC[1] NP_001395351.1:p.His530del inframe indel NM_001408423.1:c.1585_1587CAC[1] NP_001395352.1:p.His530del inframe indel NM_001408424.1:c.1585_1587CAC[1] NP_001395353.1:p.His530del inframe indel NM_001408425.1:c.1582_1584CAC[1] NP_001395354.1:p.His529del inframe indel NM_001408426.1:c.1582_1584CAC[1] NP_001395355.1:p.His529del inframe indel NM_001408427.1:c.1582_1584CAC[1] NP_001395356.1:p.His529del inframe indel NM_001408428.1:c.1582_1584CAC[1] NP_001395357.1:p.His529del inframe indel NM_001408429.1:c.1582_1584CAC[1] NP_001395358.1:p.His529del inframe indel NM_001408430.1:c.1582_1584CAC[1] NP_001395359.1:p.His529del inframe indel NM_001408431.1:c.1582_1584CAC[1] NP_001395360.1:p.His529del inframe indel NM_001408432.1:c.1579_1581CAC[1] NP_001395361.1:p.His528del inframe indel NM_001408433.1:c.1579_1581CAC[1] NP_001395362.1:p.His528del inframe indel NM_001408434.1:c.1579_1581CAC[1] NP_001395363.1:p.His528del inframe indel NM_001408435.1:c.1579_1581CAC[1] NP_001395364.1:p.His528del inframe indel NM_001408436.1:c.1579_1581CAC[1] NP_001395365.1:p.His528del inframe indel NM_001408437.1:c.1579_1581CAC[1] NP_001395366.1:p.His528del inframe indel NM_001408438.1:c.1579_1581CAC[1] NP_001395367.1:p.His528del inframe indel NM_001408439.1:c.1579_1581CAC[1] NP_001395368.1:p.His528del inframe indel NM_001408440.1:c.1579_1581CAC[1] NP_001395369.1:p.His528del inframe indel NM_001408441.1:c.1579_1581CAC[1] NP_001395370.1:p.His528del inframe indel NM_001408442.1:c.1579_1581CAC[1] NP_001395371.1:p.His528del inframe indel NM_001408443.1:c.1579_1581CAC[1] NP_001395372.1:p.His528del inframe indel NM_001408444.1:c.1579_1581CAC[1] NP_001395373.1:p.His528del inframe indel NM_001408445.1:c.1576_1578CAC[1] NP_001395374.1:p.His527del inframe indel NM_001408446.1:c.1576_1578CAC[1] NP_001395375.1:p.His527del inframe indel NM_001408447.1:c.1576_1578CAC[1] NP_001395376.1:p.His527del inframe indel NM_001408448.1:c.1576_1578CAC[1] NP_001395377.1:p.His527del inframe indel NM_001408450.1:c.1576_1578CAC[1] NP_001395379.1:p.His527del inframe indel NM_001408451.1:c.1570_1572CAC[1] NP_001395380.1:p.His525del inframe indel NM_001408452.1:c.1564_1566CAC[1] NP_001395381.1:p.His523del inframe indel NM_001408453.1:c.1564_1566CAC[1] NP_001395382.1:p.His523del inframe indel NM_001408454.1:c.1564_1566CAC[1] NP_001395383.1:p.His523del inframe indel NM_001408455.1:c.1564_1566CAC[1] NP_001395384.1:p.His523del inframe indel NM_001408456.1:c.1564_1566CAC[1] NP_001395385.1:p.His523del inframe indel NM_001408457.1:c.1564_1566CAC[1] NP_001395386.1:p.His523del inframe indel NM_001408458.1:c.1561_1563CAC[1] NP_001395387.1:p.His522del inframe indel NM_001408459.1:c.1561_1563CAC[1] NP_001395388.1:p.His522del inframe indel NM_001408460.1:c.1561_1563CAC[1] NP_001395389.1:p.His522del inframe indel NM_001408461.1:c.1561_1563CAC[1] NP_001395390.1:p.His522del inframe indel NM_001408462.1:c.1561_1563CAC[1] NP_001395391.1:p.His522del inframe indel NM_001408463.1:c.1561_1563CAC[1] NP_001395392.1:p.His522del inframe indel NM_001408464.1:c.1561_1563CAC[1] NP_001395393.1:p.His522del inframe indel NM_001408465.1:c.1561_1563CAC[1] NP_001395394.1:p.His522del inframe indel NM_001408466.1:c.1561_1563CAC[1] NP_001395395.1:p.His522del inframe indel NM_001408467.1:c.1561_1563CAC[1] NP_001395396.1:p.His522del inframe indel NM_001408468.1:c.1558_1560CAC[1] NP_001395397.1:p.His521del inframe indel NM_001408469.1:c.1558_1560CAC[1] NP_001395398.1:p.His521del inframe indel NM_001408470.1:c.1558_1560CAC[1] NP_001395399.1:p.His521del inframe indel NM_001408472.1:c.1702_1704CAC[1] NP_001395401.1:p.His569del inframe indel NM_001408473.1:c.1699_1701CAC[1] NP_001395402.1:p.His568del inframe indel NM_001408474.1:c.1504_1506CAC[1] NP_001395403.1:p.His503del inframe indel NM_001408475.1:c.1501_1503CAC[1] NP_001395404.1:p.His502del inframe indel NM_001408476.1:c.1501_1503CAC[1] NP_001395405.1:p.His502del inframe indel NM_001408478.1:c.1495_1497CAC[1] NP_001395407.1:p.His500del inframe indel NM_001408479.1:c.1495_1497CAC[1] NP_001395408.1:p.His500del inframe indel NM_001408480.1:c.1495_1497CAC[1] NP_001395409.1:p.His500del inframe indel NM_001408481.1:c.1492_1494CAC[1] NP_001395410.1:p.His499del inframe indel NM_001408482.1:c.1492_1494CAC[1] NP_001395411.1:p.His499del inframe indel NM_001408483.1:c.1492_1494CAC[1] NP_001395412.1:p.His499del inframe indel NM_001408484.1:c.1492_1494CAC[1] NP_001395413.1:p.His499del inframe indel NM_001408485.1:c.1492_1494CAC[1] NP_001395414.1:p.His499del inframe indel NM_001408489.1:c.1492_1494CAC[1] NP_001395418.1:p.His499del inframe indel NM_001408490.1:c.1492_1494CAC[1] NP_001395419.1:p.His499del inframe indel NM_001408491.1:c.1492_1494CAC[1] NP_001395420.1:p.His499del inframe indel NM_001408492.1:c.1489_1491CAC[1] NP_001395421.1:p.His498del inframe indel NM_001408493.1:c.1489_1491CAC[1] NP_001395422.1:p.His498del inframe indel NM_001408494.1:c.1465_1467CAC[1] NP_001395423.1:p.His490del inframe indel NM_001408495.1:c.1459_1461CAC[1] NP_001395424.1:p.His488del inframe indel NM_001408496.1:c.1441_1443CAC[1] NP_001395425.1:p.His482del inframe indel NM_001408497.1:c.1441_1443CAC[1] NP_001395426.1:p.His482del inframe indel NM_001408498.1:c.1441_1443CAC[1] NP_001395427.1:p.His482del inframe indel NM_001408499.1:c.1441_1443CAC[1] NP_001395428.1:p.His482del inframe indel NM_001408500.1:c.1441_1443CAC[1] NP_001395429.1:p.His482del inframe indel NM_001408501.1:c.1441_1443CAC[1] NP_001395430.1:p.His482del inframe indel NM_001408502.1:c.1438_1440CAC[1] NP_001395431.1:p.His481del inframe indel NM_001408503.1:c.1438_1440CAC[1] NP_001395432.1:p.His481del inframe indel NM_001408504.1:c.1438_1440CAC[1] NP_001395433.1:p.His481del inframe indel NM_001408505.1:c.1435_1437CAC[1] NP_001395434.1:p.His480del inframe indel NM_001408506.1:c.1378_1380CAC[1] NP_001395435.1:p.His461del inframe indel NM_001408507.1:c.1375_1377CAC[1] NP_001395436.1:p.His460del inframe indel NM_001408508.1:c.1366_1368CAC[1] NP_001395437.1:p.His457del inframe indel NM_001408509.1:c.1363_1365CAC[1] NP_001395438.1:p.His456del inframe indel NM_001408510.1:c.1324_1326CAC[1] NP_001395439.1:p.His443del inframe indel NM_001408511.1:c.1321_1323CAC[1] NP_001395440.1:p.His442del inframe indel NM_001408512.1:c.1201_1203CAC[1] NP_001395441.1:p.His402del inframe indel NM_001408513.1:c.1174_1176CAC[1] NP_001395442.1:p.His393del inframe indel NM_007294.3:c.5014_5016CAC[1] NP_009225.1:p.His1673del inframe indel NM_007294.3:c.5017_5019del inframe indel NM_007294.3:c.5017_5019delCAC inframe indel NM_007297.4:c.4873CAC[1] NP_009228.2:p.His1626del inframe deletion NM_007298.4:c.1702_1704CAC[1] NP_009229.2:p.His569del inframe indel NM_007299.4:c.1702CAC[1] NP_009230.2:p.His569del inframe deletion NM_007300.4:c.5077CAC[1] NP_009231.2:p.His1694del inframe deletion NM_007304.2:c.1702_1704CAC[1] NP_009235.2:p.His569del inframe indel NR_027676.2:n.5191CAC[1] non-coding transcript variant NC_000017.11:g.43067663GTG[1] NC_000017.10:g.41219680GTG[1] NG_005905.2:g.150316CAC[1] LRG_292:g.150316CAC[1] LRG_292t1:c.5014_5016CAC[1] LRG_292p1:p.His1673del U14680.1:n.5136_5138delCAC - Protein change
- H1673del, H1694del, H569del, H1626del, H1377del, H1545del, H1560del, H1561del, H1583del, H1602del, H1603del, H1629del, H1631del, H1645del, H1647del, H442del, H461del, H498del, H499del, H527del, H529del, H530del, H543del, H570del, H1562del, H1585del, H1601del, H1604del, H1625del, H1632del, H1653del, H1654del, H1668del, H1670del, H402del, H460del, H490del, H500del, H521del, H522del, H531del, H544del, H545del, H567del, H592del, H804del, H1376del, H1544del, H1624del, H1630del, H1646del, H1669del, H1672del, H1695del, H393del, H456del, H457del, H488del, H502del, H525del, H528del, H566del, H568del, H591del, H1504del, H1519del, H1546del, H1584del, H1606del, H1671del, H1693del, H443del, H480del, H481del, H482del, H503del, H523del, H805del
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067662:GTGGTG:GTG
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jun 27, 2024 | RCV000048738.15 | |
| Likely pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Feb 23, 2023 | RCV000112464.12 | |
| Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 1, 2021 | RCV000579949.11 | |
| Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
May 1, 2024 | RCV000586937.10 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Likely pathogenic
(Aug 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
MGZ Medical Genetics Center
Accession: SCV002579113.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS4, PM4, PM2_SUP
|
Number of individuals with the variant: 1
Sex: male
|
|
|
Likely pathogenic
(Feb 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
|
3billion
Accession: SCV003842017.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in inframe deletion located in a non-repeat region and … (more)
The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in inframe deletion located in a non-repeat region and is predicted to change the length of the protein and disrupt normal protein function. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000055355). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Ovarian papillary adenocarcinoma (present)
|
|
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Likely pathogenic
(Apr 25, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216974.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
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Likely pathogenic
(Jan 18, 2024)
|
criteria provided, single submitter
Method: curation
|
Hereditary breast ovarian cancer syndrome
Affected status: not provided
Allele origin:
germline
|
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV004231863.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): Absent from gnomAD, PM3 (medium pathogenic): Borlin 2022 (PMID: … (more)
. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): Absent from gnomAD, PM3 (medium pathogenic): Borlin 2022 (PMID: 35373906): 1 Pat. comp. het. +c.1116G>A [p.(Trp372*)]; 2 months severe growth retardation+dysmorphic features+hyperpigmented, 13 months CNS tumor; MMC-induced chromosomal breakage analysis in peripheral blood lymphocytes showed strongly reduced proliferation upon stimulation, but no evidence of increased chromosomal breakage; phenotype: cancer diagnosis ≤5yr + FA physical features score: 2 = moderate, PP1 (strong pathogenic): Among these, co-segregation in the 4 pedigrees with multiple members tested (the largest one is shown in Figure Figure2)2) resulted in a combined odds in favor of causality of 16.1:1. Parsons et al. Segregation LR=17.557504599 (less)
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Likely pathogenic
(May 09, 2022)
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criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003825413.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Likely pathogenic
(Sep 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683241.5
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant causes a deletion of histidine at codon 1673 in the BRCT1 domain of the BRCA1 protein. To our knowledge, functional studies have not … (more)
This variant causes a deletion of histidine at codon 1673 in the BRCT1 domain of the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. In silico modeling has shown that His1673 in the BRCT domain of BRCA1 is predicted to interact with the BRCT domain of BARD1 (PMID 28186987). This variant has been reported in more than 20 unrelated individuals affected with breast and/or ovarian cancer (11802209, 19499246, 28186987, 28364669, 30725392, 33078592, 33801055, 33875706, 34063308), and a multifactorial analysis has reported a segregation likelihood ratio for pathogenicity of 17.5575 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although additional studies are necessary to determine the mechanism of disease for this variant, this variant is classified as Likely Pathogenic based on the available clinical evidence. (less)
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Pathogenic
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076751.11
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
This variant, c.5017_5019del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.His1673del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.5017_5019del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.His1673del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with BRCA1-related conditions (PMID: 11802209, 18092194, 19499246, 27062684, 28186987, 34645131, 36601340; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 5136delCAC. ClinVar contains an entry for this variant (Variation ID: 55355). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 28186987). For these reasons, this variant has been classified as Pathogenic. (less)
|
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Likely pathogenic
(Nov 10, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV001185296.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The c.5017_5019delCAC variant (also known as p.H1673del) is located in coding exon 15 of the BRCA1 gene. This variant results from an in-frame deletion of … (more)
The c.5017_5019delCAC variant (also known as p.H1673del) is located in coding exon 15 of the BRCA1 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 5017 to 5019. This results in the deletion of a histidine residue at codon 1673 that is not well conserved. This alteration has been reported in a German cohort of families with one or more cases of breast and at least one ovarian cancer (Meindl A et al, Int. J. Cancer 2002 Feb; 97(4):472-80). This alteration was also reported in 14 Northern Italian families with breast and/or ovarian cancer whose tumors demonstrated frequent BRCA1 loss-of-heterozygosity in tumors (Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration segregates strongly with breast and ovarian cancer in multiple families (Ambry internal data; Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration is also designated as 5136delCAC in the published literature. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
|
|
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Likely pathogenic
(May 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159949.2
First in ClinVar: Feb 10, 2020 Last updated: Jun 02, 2024 |
Comment:
The BRCA1 c.5017_5019del; p.His1673del variant (rs80358343; ClinVar Variation ID: 55355) has been described in the literature in multiple individuals and families with breast and ovarian … (more)
The BRCA1 c.5017_5019del; p.His1673del variant (rs80358343; ClinVar Variation ID: 55355) has been described in the literature in multiple individuals and families with breast and ovarian cancer (Bang 2022), with some families showing incomplete co-segregation of the variant with disease (Zuntini 2017). This variant was found in trans with a pathogenic variant in an infant with Fanconi anemia (Borlin 2022). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant deletes a single histidine residue leaving the rest of the predicted protein in-frame. Based on available information, this variant is considered to be likely pathogenic. References: Bang YJ et al. Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant. Ann Surg Treat Res. 2022 Dec;103(6):323-330. PMID: 36601340. Borlin PR et al. Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child. Pediatr Blood Cancer. 2022 Oct;69(10):e29680. PMID: 35373906. Zuntini R et al. BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype. Oncotarget. 2017 Apr 4;8(14):22640-22648. PMID: 28186987. (less)
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Likely pathogenic
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001140496.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
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Likely pathogenic
(Aug 04, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001470005.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. … (more)
Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Located in potentially critical domain of the protein. Segregation with disease in unaffected individuals from multiple families. (less)
|
|
|
Likely pathogenic
(Feb 25, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
|
Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001934457.2
First in ClinVar: Sep 25, 2021 Last updated: Feb 13, 2022 |
Comment:
Criteria applied: PS4_STR, PM4_SUP, PM2_SUP
|
|
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Pathogenic
(Jun 27, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699193.2
First in ClinVar: Mar 17, 2018 Last updated: Sep 16, 2024 |
Comment:
Variant summary: BRCA1 c.5017_5019delCAC (p.His1673del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant was … (more)
Variant summary: BRCA1 c.5017_5019delCAC (p.His1673del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant was absent in 252158 control chromosomes (gnomAD). c.5017_5019delCAC has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Zuntini_2017, Bang_2022). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 11802209, 36601340, 19941162, 19499246, 18092194, 27062684, 28186987). ClinVar contains an entry for this variant (Variation ID: 55355). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
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Pathogenic
(Sep 01, 2023)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Medical and Surgical Sciences, University of Bologna
Accession: SCV004228366.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
PS3(Strong)+PM3(Supporting)+PP4(Very Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
|
|
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Uncertain significance
(Apr 05, 1999)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: Older claim that does not account for recent evidence
Source: ClinGen
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145262.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
|
|
|
Uncertain significance
(Oct 17, 2017)
|
Flagged submission
flagged submission
Method: clinical testing
Reason: Older claim that does not account for recent evidence
Source: ClinGen
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000570821.5
First in ClinVar: Apr 29, 2017 Last updated: Mar 17, 2018 |
Comment:
This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5017_5019delCAC at the cDNA level and p.His1673del (H1673del) at the protein level. The normal sequence, … (more)
This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5017_5019delCAC at the cDNA level and p.His1673del (H1673del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAC[delCAC]ATCA. This deletion of a single Histidine residue occurs at a position that is not conserved and is located in the BRCT1 domain as well as a region known to interact with multiple other proteins (Paul 2014, UniProt). This variant has been observed in individuals with breast and/or ovarian cancer (Lim 2009, Ryu 2017, Zuntini 2017). Protein modeling suggests that this residue may play a role in protein stability (Coquelle 2011). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA1 His1673del to be a variant of uncertain significance. (less)
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| Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more | |||||
Comment:
Comment:
. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): Absent from gnomAD, PM3 (medium pathogenic): Borlin 2022 (PMID: 35373906): 1 Pat. comp. het. +c.1116G>A [p.(Trp372*)]; 2 months severe growth retardation+dysmorphic features+hyperpigmented, 13 months CNS tumor; MMC-induced chromosomal breakage analysis in peripheral blood lymphocytes showed strongly reduced proliferation upon stimulation, but no evidence of increased chromosomal breakage; phenotype: cancer diagnosis ≤5yr + FA physical features score: 2 = moderate, PP1 (strong pathogenic): Among these, co-segregation in the 4 pedigrees with multiple members tested (the largest one is shown in Figure Figure2)2) resulted in a combined odds in favor of causality of 16.1:1. Parsons et al. Segregation LR=17.557504599
Comment:
This variant causes a deletion of histidine at codon 1673 in the BRCT1 domain of the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. In silico modeling has shown that His1673 in the BRCT domain of BRCA1 is predicted to interact with the BRCT domain of BARD1 (PMID 28186987). This variant has been reported in more than 20 unrelated individuals affected with breast and/or ovarian cancer (11802209, 19499246, 28186987, 28364669, 30725392, 33078592, 33801055, 33875706, 34063308), and a multifactorial analysis has reported a segregation likelihood ratio for pathogenicity of 17.5575 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although additional studies are necessary to determine the mechanism of disease for this variant, this variant is classified as Likely Pathogenic based on the available clinical evidence.
Comment:
This variant, c.5017_5019del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.His1673del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with BRCA1-related conditions (PMID: 11802209, 18092194, 19499246, 27062684, 28186987, 34645131, 36601340; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 5136delCAC. ClinVar contains an entry for this variant (Variation ID: 55355). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 28186987). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.5017_5019delCAC variant (also known as p.H1673del) is located in coding exon 15 of the BRCA1 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 5017 to 5019. This results in the deletion of a histidine residue at codon 1673 that is not well conserved. This alteration has been reported in a German cohort of families with one or more cases of breast and at least one ovarian cancer (Meindl A et al, Int. J. Cancer 2002 Feb; 97(4):472-80). This alteration was also reported in 14 Northern Italian families with breast and/or ovarian cancer whose tumors demonstrated frequent BRCA1 loss-of-heterozygosity in tumors (Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration segregates strongly with breast and ovarian cancer in multiple families (Ambry internal data; Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration is also designated as 5136delCAC in the published literature. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Comment:
The BRCA1 c.5017_5019del; p.His1673del variant (rs80358343; ClinVar Variation ID: 55355) has been described in the literature in multiple individuals and families with breast and ovarian cancer (Bang 2022), with some families showing incomplete co-segregation of the variant with disease (Zuntini 2017). This variant was found in trans with a pathogenic variant in an infant with Fanconi anemia (Borlin 2022). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant deletes a single histidine residue leaving the rest of the predicted protein in-frame. Based on available information, this variant is considered to be likely pathogenic. References: Bang YJ et al. Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant. Ann Surg Treat Res. 2022 Dec;103(6):323-330. PMID: 36601340. Borlin PR et al. Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child. Pediatr Blood Cancer. 2022 Oct;69(10):e29680. PMID: 35373906. Zuntini R et al. BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype. Oncotarget. 2017 Apr 4;8(14):22640-22648. PMID: 28186987.
Comment:
Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Located in potentially critical domain of the protein. Segregation with disease in unaffected individuals from multiple families.
Comment:
Criteria applied: PS4_STR, PM4_SUP, PM2_SUP
Comment:
Variant summary: BRCA1 c.5017_5019delCAC (p.His1673del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant was absent in 252158 control chromosomes (gnomAD). c.5017_5019delCAC has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Zuntini_2017, Bang_2022). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 11802209, 36601340, 19941162, 19499246, 18092194, 27062684, 28186987). ClinVar contains an entry for this variant (Variation ID: 55355). Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
PS3(Strong)+PM3(Supporting)+PP4(Very Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
Comment:
This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5017_5019delCAC at the cDNA level and p.His1673del (H1673del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAC[delCAC]ATCA. This deletion of a single Histidine residue occurs at a position that is not conserved and is located in the BRCT1 domain as well as a region known to interact with multiple other proteins (Paul 2014, UniProt). This variant has been observed in individuals with breast and/or ovarian cancer (Lim 2009, Ryu 2017, Zuntini 2017). Protein modeling suggests that this residue may play a role in protein stability (Coquelle 2011). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA1 His1673del to be a variant of uncertain significance.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in inframe deletion located in a non-repeat region and is predicted to change the length of the protein and disrupt normal protein function. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000055355). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
Comment:
. According to the ClinGen ENIGMA BRCA1 v1.0.0 criteria we chose these criteria: PM2 (supporting pathogenic): Absent from gnomAD, PM3 (medium pathogenic): Borlin 2022 (PMID: 35373906): 1 Pat. comp. het. +c.1116G>A [p.(Trp372*)]; 2 months severe growth retardation+dysmorphic features+hyperpigmented, 13 months CNS tumor; MMC-induced chromosomal breakage analysis in peripheral blood lymphocytes showed strongly reduced proliferation upon stimulation, but no evidence of increased chromosomal breakage; phenotype: cancer diagnosis ≤5yr + FA physical features score: 2 = moderate, PP1 (strong pathogenic): Among these, co-segregation in the 4 pedigrees with multiple members tested (the largest one is shown in Figure Figure2)2) resulted in a combined odds in favor of causality of 16.1:1. Parsons et al. Segregation LR=17.557504599
Comment:
This variant causes a deletion of histidine at codon 1673 in the BRCT1 domain of the BRCA1 protein. To our knowledge, functional studies have not been reported for this variant. In silico modeling has shown that His1673 in the BRCT domain of BRCA1 is predicted to interact with the BRCT domain of BARD1 (PMID 28186987). This variant has been reported in more than 20 unrelated individuals affected with breast and/or ovarian cancer (11802209, 19499246, 28186987, 28364669, 30725392, 33078592, 33801055, 33875706, 34063308), and a multifactorial analysis has reported a segregation likelihood ratio for pathogenicity of 17.5575 (PMID: 31131967). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although additional studies are necessary to determine the mechanism of disease for this variant, this variant is classified as Likely Pathogenic based on the available clinical evidence.
Comment:
This variant, c.5017_5019del, results in the deletion of 1 amino acid(s) of the BRCA1 protein (p.His1673del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with BRCA1-related conditions (PMID: 11802209, 18092194, 19499246, 27062684, 28186987, 34645131, 36601340; Invitae). It has also been observed to segregate with disease in related individuals. This variant is also known as 5136delCAC. ClinVar contains an entry for this variant (Variation ID: 55355). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 28186987). For these reasons, this variant has been classified as Pathogenic.
Comment:
The c.5017_5019delCAC variant (also known as p.H1673del) is located in coding exon 15 of the BRCA1 gene. This variant results from an in-frame deletion of 3 nucleotides at positions 5017 to 5019. This results in the deletion of a histidine residue at codon 1673 that is not well conserved. This alteration has been reported in a German cohort of families with one or more cases of breast and at least one ovarian cancer (Meindl A et al, Int. J. Cancer 2002 Feb; 97(4):472-80). This alteration was also reported in 14 Northern Italian families with breast and/or ovarian cancer whose tumors demonstrated frequent BRCA1 loss-of-heterozygosity in tumors (Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration segregates strongly with breast and ovarian cancer in multiple families (Ambry internal data; Zuntini R et al. Oncotarget, 2017 Apr;8:22640-22648). This alteration is also designated as 5136delCAC in the published literature. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Comment:
The BRCA1 c.5017_5019del; p.His1673del variant (rs80358343; ClinVar Variation ID: 55355) has been described in the literature in multiple individuals and families with breast and ovarian cancer (Bang 2022), with some families showing incomplete co-segregation of the variant with disease (Zuntini 2017). This variant was found in trans with a pathogenic variant in an infant with Fanconi anemia (Borlin 2022). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant deletes a single histidine residue leaving the rest of the predicted protein in-frame. Based on available information, this variant is considered to be likely pathogenic. References: Bang YJ et al. Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant. Ann Surg Treat Res. 2022 Dec;103(6):323-330. PMID: 36601340. Borlin PR et al. Cancer in children with biallelic BRCA1 variants and Fanconi anemia-like features: Report of a malignant brain tumor in a young child. Pediatr Blood Cancer. 2022 Oct;69(10):e29680. PMID: 35373906. Zuntini R et al. BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype. Oncotarget. 2017 Apr 4;8(14):22640-22648. PMID: 28186987.
Comment:
Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Located in potentially critical domain of the protein. Segregation with disease in unaffected individuals from multiple families.
Comment:
Criteria applied: PS4_STR, PM4_SUP, PM2_SUP
Comment:
Variant summary: BRCA1 c.5017_5019delCAC (p.His1673del) results in an in-frame deletion that is predicted to remove 1 amino acid from the encoded protein. The variant was absent in 252158 control chromosomes (gnomAD). c.5017_5019delCAC has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Zuntini_2017, Bang_2022). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 11802209, 36601340, 19941162, 19499246, 18092194, 27062684, 28186987). ClinVar contains an entry for this variant (Variation ID: 55355). Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
PS3(Strong)+PM3(Supporting)+PP4(Very Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)
Comment:
This in-frame deletion of 3 nucleotides in BRCA1 is denoted c.5017_5019delCAC at the cDNA level and p.His1673del (H1673del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAC[delCAC]ATCA. This deletion of a single Histidine residue occurs at a position that is not conserved and is located in the BRCT1 domain as well as a region known to interact with multiple other proteins (Paul 2014, UniProt). This variant has been observed in individuals with breast and/or ovarian cancer (Lim 2009, Ryu 2017, Zuntini 2017). Protein modeling suggests that this residue may play a role in protein stability (Coquelle 2011). Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA1 His1673del to be a variant of uncertain significance.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Comprehensive clinical characterization of patients with BRCA1: c.5017_5019del germline variant. | Bang YJ | Annals of surgical treatment and research | 2022 | PMID: 36601340 |
| Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients. | Bang YJ | Cancer research and treatment | 2022 | PMID: 34645131 |
| Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers. | Ha HI | Journal of gynecologic oncology | 2020 | PMID: 33078592 |
| Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
| Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help? | Zuntini R | Frontiers in genetics | 2018 | PMID: 30254663 |
| Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. | Ryu JM | Breast (Edinburgh, Scotland) | 2017 | PMID: 28364669 |
| Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
| BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype. | Zuntini R | Oncotarget | 2017 | PMID: 28186987 |
| Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. | Azzollini J | European journal of internal medicine | 2016 | PMID: 27062684 |
| Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. | Houdayer C | Human mutation | 2012 | PMID: 22505045 |
| High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. | Schroeder C | Breast cancer research and treatment | 2010 | PMID: 19941162 |
| BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients. | Lim MC | Journal of cancer research and clinical oncology | 2009 | PMID: 19499246 |
| Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations. | Seymour IJ | Breast cancer research and treatment | 2008 | PMID: 18092194 |
| Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. | Meindl A | International journal of cancer | 2002 | PMID: 11802209 |
| The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
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Record last updated Nov 19, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.