In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.4167G>T
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)
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.
(9)
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.
Conflicting classifications of pathogenicity
Uncertain significance(7); Likely benign(2)
Uncertain significance(7); Likely benign(2)
9
criteria provided, conflicting classifications
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys)
Variation ID: 231563 Accession: VCV000231563.24
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43091483 (GRCh38) [ NCBI UCSC ] 17: 41243500 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 May 29, 2016 May 1, 2024 Aug 15, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4048G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1350Cys missense NM_001407571.1:c.3835G>T NP_001394500.1:p.Gly1279Cys missense NM_001407581.1:c.4048G>T NP_001394510.1:p.Gly1350Cys missense NM_001407582.1:c.4048G>T NP_001394511.1:p.Gly1350Cys missense NM_001407583.1:c.4048G>T NP_001394512.1:p.Gly1350Cys missense NM_001407585.1:c.4048G>T NP_001394514.1:p.Gly1350Cys missense NM_001407587.1:c.4045G>T NP_001394516.1:p.Gly1349Cys missense NM_001407590.1:c.4045G>T NP_001394519.1:p.Gly1349Cys missense NM_001407591.1:c.4045G>T NP_001394520.1:p.Gly1349Cys missense NM_001407593.1:c.4048G>T NP_001394522.1:p.Gly1350Cys missense NM_001407594.1:c.4048G>T NP_001394523.1:p.Gly1350Cys missense NM_001407596.1:c.4048G>T NP_001394525.1:p.Gly1350Cys missense NM_001407597.1:c.4048G>T NP_001394526.1:p.Gly1350Cys missense NM_001407598.1:c.4048G>T NP_001394527.1:p.Gly1350Cys missense NM_001407602.1:c.4048G>T NP_001394531.1:p.Gly1350Cys missense NM_001407603.1:c.4048G>T NP_001394532.1:p.Gly1350Cys missense NM_001407605.1:c.4048G>T NP_001394534.1:p.Gly1350Cys missense NM_001407610.1:c.4045G>T NP_001394539.1:p.Gly1349Cys missense NM_001407611.1:c.4045G>T NP_001394540.1:p.Gly1349Cys missense NM_001407612.1:c.4045G>T NP_001394541.1:p.Gly1349Cys missense NM_001407613.1:c.4045G>T NP_001394542.1:p.Gly1349Cys missense NM_001407614.1:c.4045G>T NP_001394543.1:p.Gly1349Cys missense NM_001407615.1:c.4045G>T NP_001394544.1:p.Gly1349Cys missense NM_001407616.1:c.4048G>T NP_001394545.1:p.Gly1350Cys missense NM_001407617.1:c.4048G>T NP_001394546.1:p.Gly1350Cys missense NM_001407618.1:c.4048G>T NP_001394547.1:p.Gly1350Cys missense NM_001407619.1:c.4048G>T NP_001394548.1:p.Gly1350Cys missense NM_001407620.1:c.4048G>T NP_001394549.1:p.Gly1350Cys missense NM_001407621.1:c.4048G>T NP_001394550.1:p.Gly1350Cys missense NM_001407622.1:c.4048G>T NP_001394551.1:p.Gly1350Cys missense NM_001407623.1:c.4048G>T NP_001394552.1:p.Gly1350Cys missense NM_001407624.1:c.4048G>T NP_001394553.1:p.Gly1350Cys missense NM_001407625.1:c.4048G>T NP_001394554.1:p.Gly1350Cys missense NM_001407626.1:c.4048G>T NP_001394555.1:p.Gly1350Cys missense NM_001407627.1:c.4045G>T NP_001394556.1:p.Gly1349Cys missense NM_001407628.1:c.4045G>T NP_001394557.1:p.Gly1349Cys missense NM_001407629.1:c.4045G>T NP_001394558.1:p.Gly1349Cys missense NM_001407630.1:c.4045G>T NP_001394559.1:p.Gly1349Cys missense NM_001407631.1:c.4045G>T NP_001394560.1:p.Gly1349Cys missense NM_001407632.1:c.4045G>T NP_001394561.1:p.Gly1349Cys missense NM_001407633.1:c.4045G>T NP_001394562.1:p.Gly1349Cys missense NM_001407634.1:c.4045G>T NP_001394563.1:p.Gly1349Cys missense NM_001407635.1:c.4045G>T NP_001394564.1:p.Gly1349Cys missense NM_001407636.1:c.4045G>T NP_001394565.1:p.Gly1349Cys missense NM_001407637.1:c.4045G>T NP_001394566.1:p.Gly1349Cys missense NM_001407638.1:c.4045G>T NP_001394567.1:p.Gly1349Cys missense NM_001407639.1:c.4048G>T NP_001394568.1:p.Gly1350Cys missense NM_001407640.1:c.4048G>T NP_001394569.1:p.Gly1350Cys missense NM_001407641.1:c.4048G>T NP_001394570.1:p.Gly1350Cys missense NM_001407642.1:c.4048G>T NP_001394571.1:p.Gly1350Cys missense NM_001407644.1:c.4045G>T NP_001394573.1:p.Gly1349Cys missense NM_001407645.1:c.4045G>T NP_001394574.1:p.Gly1349Cys missense NM_001407646.1:c.4039G>T NP_001394575.1:p.Gly1347Cys missense NM_001407647.1:c.4039G>T NP_001394576.1:p.Gly1347Cys missense NM_001407648.1:c.3925G>T NP_001394577.1:p.Gly1309Cys missense NM_001407649.1:c.3922G>T NP_001394578.1:p.Gly1308Cys missense NM_001407652.1:c.4048G>T NP_001394581.1:p.Gly1350Cys missense NM_001407653.1:c.3970G>T NP_001394582.1:p.Gly1324Cys missense NM_001407654.1:c.3970G>T NP_001394583.1:p.Gly1324Cys missense NM_001407655.1:c.3970G>T NP_001394584.1:p.Gly1324Cys missense NM_001407656.1:c.3970G>T NP_001394585.1:p.Gly1324Cys missense NM_001407657.1:c.3970G>T NP_001394586.1:p.Gly1324Cys missense NM_001407658.1:c.3970G>T NP_001394587.1:p.Gly1324Cys missense NM_001407659.1:c.3967G>T NP_001394588.1:p.Gly1323Cys missense NM_001407660.1:c.3967G>T NP_001394589.1:p.Gly1323Cys missense NM_001407661.1:c.3967G>T NP_001394590.1:p.Gly1323Cys missense NM_001407662.1:c.3967G>T NP_001394591.1:p.Gly1323Cys missense NM_001407663.1:c.3970G>T NP_001394592.1:p.Gly1324Cys missense NM_001407664.1:c.3925G>T NP_001394593.1:p.Gly1309Cys missense NM_001407665.1:c.3925G>T NP_001394594.1:p.Gly1309Cys missense NM_001407666.1:c.3925G>T NP_001394595.1:p.Gly1309Cys missense NM_001407667.1:c.3925G>T NP_001394596.1:p.Gly1309Cys missense NM_001407668.1:c.3925G>T NP_001394597.1:p.Gly1309Cys missense NM_001407669.1:c.3925G>T NP_001394598.1:p.Gly1309Cys missense NM_001407670.1:c.3922G>T NP_001394599.1:p.Gly1308Cys missense NM_001407671.1:c.3922G>T NP_001394600.1:p.Gly1308Cys missense NM_001407672.1:c.3922G>T NP_001394601.1:p.Gly1308Cys missense NM_001407673.1:c.3922G>T NP_001394602.1:p.Gly1308Cys missense NM_001407674.1:c.3925G>T NP_001394603.1:p.Gly1309Cys missense NM_001407675.1:c.3925G>T NP_001394604.1:p.Gly1309Cys missense NM_001407676.1:c.3925G>T NP_001394605.1:p.Gly1309Cys missense NM_001407677.1:c.3925G>T NP_001394606.1:p.Gly1309Cys missense NM_001407678.1:c.3925G>T NP_001394607.1:p.Gly1309Cys missense NM_001407679.1:c.3925G>T NP_001394608.1:p.Gly1309Cys missense NM_001407680.1:c.3925G>T NP_001394609.1:p.Gly1309Cys missense NM_001407681.1:c.3925G>T NP_001394610.1:p.Gly1309Cys missense NM_001407682.1:c.3925G>T NP_001394611.1:p.Gly1309Cys missense NM_001407683.1:c.3925G>T NP_001394612.1:p.Gly1309Cys missense NM_001407684.1:c.4048G>T NP_001394613.1:p.Gly1350Cys missense NM_001407685.1:c.3922G>T NP_001394614.1:p.Gly1308Cys missense NM_001407686.1:c.3922G>T NP_001394615.1:p.Gly1308Cys missense NM_001407687.1:c.3922G>T NP_001394616.1:p.Gly1308Cys missense NM_001407688.1:c.3922G>T NP_001394617.1:p.Gly1308Cys missense NM_001407689.1:c.3922G>T NP_001394618.1:p.Gly1308Cys missense NM_001407690.1:c.3922G>T NP_001394619.1:p.Gly1308Cys missense NM_001407691.1:c.3922G>T NP_001394620.1:p.Gly1308Cys missense NM_001407692.1:c.3907G>T NP_001394621.1:p.Gly1303Cys missense NM_001407694.1:c.3907G>T NP_001394623.1:p.Gly1303Cys missense NM_001407695.1:c.3907G>T NP_001394624.1:p.Gly1303Cys missense NM_001407696.1:c.3907G>T NP_001394625.1:p.Gly1303Cys missense NM_001407697.1:c.3907G>T NP_001394626.1:p.Gly1303Cys missense NM_001407698.1:c.3907G>T NP_001394627.1:p.Gly1303Cys missense NM_001407724.1:c.3907G>T NP_001394653.1:p.Gly1303Cys missense NM_001407725.1:c.3907G>T NP_001394654.1:p.Gly1303Cys missense NM_001407726.1:c.3907G>T NP_001394655.1:p.Gly1303Cys missense NM_001407727.1:c.3907G>T NP_001394656.1:p.Gly1303Cys missense NM_001407728.1:c.3907G>T NP_001394657.1:p.Gly1303Cys missense NM_001407729.1:c.3907G>T NP_001394658.1:p.Gly1303Cys missense NM_001407730.1:c.3907G>T NP_001394659.1:p.Gly1303Cys missense NM_001407731.1:c.3907G>T NP_001394660.1:p.Gly1303Cys missense NM_001407732.1:c.3907G>T NP_001394661.1:p.Gly1303Cys missense NM_001407733.1:c.3907G>T NP_001394662.1:p.Gly1303Cys missense NM_001407734.1:c.3907G>T NP_001394663.1:p.Gly1303Cys missense NM_001407735.1:c.3907G>T NP_001394664.1:p.Gly1303Cys missense NM_001407736.1:c.3907G>T NP_001394665.1:p.Gly1303Cys missense NM_001407737.1:c.3907G>T NP_001394666.1:p.Gly1303Cys missense NM_001407738.1:c.3907G>T NP_001394667.1:p.Gly1303Cys missense NM_001407739.1:c.3907G>T NP_001394668.1:p.Gly1303Cys missense NM_001407740.1:c.3904G>T NP_001394669.1:p.Gly1302Cys missense NM_001407741.1:c.3904G>T NP_001394670.1:p.Gly1302Cys missense NM_001407742.1:c.3904G>T NP_001394671.1:p.Gly1302Cys missense NM_001407743.1:c.3904G>T NP_001394672.1:p.Gly1302Cys missense NM_001407744.1:c.3904G>T NP_001394673.1:p.Gly1302Cys missense NM_001407745.1:c.3904G>T NP_001394674.1:p.Gly1302Cys missense NM_001407746.1:c.3904G>T NP_001394675.1:p.Gly1302Cys missense NM_001407747.1:c.3904G>T NP_001394676.1:p.Gly1302Cys missense NM_001407748.1:c.3904G>T NP_001394677.1:p.Gly1302Cys missense NM_001407749.1:c.3904G>T NP_001394678.1:p.Gly1302Cys missense NM_001407750.1:c.3907G>T NP_001394679.1:p.Gly1303Cys missense NM_001407751.1:c.3907G>T NP_001394680.1:p.Gly1303Cys missense NM_001407752.1:c.3907G>T NP_001394681.1:p.Gly1303Cys missense NM_001407838.1:c.3904G>T NP_001394767.1:p.Gly1302Cys missense NM_001407839.1:c.3904G>T NP_001394768.1:p.Gly1302Cys missense NM_001407841.1:c.3904G>T NP_001394770.1:p.Gly1302Cys missense NM_001407842.1:c.3904G>T NP_001394771.1:p.Gly1302Cys missense NM_001407843.1:c.3904G>T NP_001394772.1:p.Gly1302Cys missense NM_001407844.1:c.3904G>T NP_001394773.1:p.Gly1302Cys missense NM_001407845.1:c.3904G>T NP_001394774.1:p.Gly1302Cys missense NM_001407846.1:c.3904G>T NP_001394775.1:p.Gly1302Cys missense NM_001407847.1:c.3904G>T NP_001394776.1:p.Gly1302Cys missense NM_001407848.1:c.3904G>T NP_001394777.1:p.Gly1302Cys missense NM_001407849.1:c.3904G>T NP_001394778.1:p.Gly1302Cys missense NM_001407850.1:c.3907G>T NP_001394779.1:p.Gly1303Cys missense NM_001407851.1:c.3907G>T NP_001394780.1:p.Gly1303Cys missense NM_001407852.1:c.3907G>T NP_001394781.1:p.Gly1303Cys missense NM_001407853.1:c.3835G>T NP_001394782.1:p.Gly1279Cys missense NM_001407854.1:c.4048G>T NP_001394783.1:p.Gly1350Cys missense NM_001407858.1:c.4048G>T NP_001394787.1:p.Gly1350Cys missense NM_001407859.1:c.4048G>T NP_001394788.1:p.Gly1350Cys missense NM_001407860.1:c.4045G>T NP_001394789.1:p.Gly1349Cys missense NM_001407861.1:c.4045G>T NP_001394790.1:p.Gly1349Cys missense NM_001407862.1:c.3847G>T NP_001394791.1:p.Gly1283Cys missense NM_001407863.1:c.3925G>T NP_001394792.1:p.Gly1309Cys missense NM_001407874.1:c.3844G>T NP_001394803.1:p.Gly1282Cys missense NM_001407875.1:c.3844G>T NP_001394804.1:p.Gly1282Cys missense NM_001407879.1:c.3838G>T NP_001394808.1:p.Gly1280Cys missense NM_001407881.1:c.3838G>T NP_001394810.1:p.Gly1280Cys missense NM_001407882.1:c.3838G>T NP_001394811.1:p.Gly1280Cys missense NM_001407884.1:c.3838G>T NP_001394813.1:p.Gly1280Cys missense NM_001407885.1:c.3838G>T NP_001394814.1:p.Gly1280Cys missense NM_001407886.1:c.3838G>T NP_001394815.1:p.Gly1280Cys missense NM_001407887.1:c.3838G>T NP_001394816.1:p.Gly1280Cys missense NM_001407889.1:c.3838G>T NP_001394818.1:p.Gly1280Cys missense NM_001407894.1:c.3835G>T NP_001394823.1:p.Gly1279Cys missense NM_001407895.1:c.3835G>T NP_001394824.1:p.Gly1279Cys missense NM_001407896.1:c.3835G>T NP_001394825.1:p.Gly1279Cys missense NM_001407897.1:c.3835G>T NP_001394826.1:p.Gly1279Cys missense NM_001407898.1:c.3835G>T NP_001394827.1:p.Gly1279Cys missense NM_001407899.1:c.3835G>T NP_001394828.1:p.Gly1279Cys missense NM_001407900.1:c.3838G>T NP_001394829.1:p.Gly1280Cys missense NM_001407902.1:c.3838G>T NP_001394831.1:p.Gly1280Cys missense NM_001407904.1:c.3838G>T NP_001394833.1:p.Gly1280Cys missense NM_001407906.1:c.3838G>T NP_001394835.1:p.Gly1280Cys missense NM_001407907.1:c.3838G>T NP_001394836.1:p.Gly1280Cys missense NM_001407908.1:c.3838G>T NP_001394837.1:p.Gly1280Cys missense NM_001407909.1:c.3838G>T NP_001394838.1:p.Gly1280Cys missense NM_001407910.1:c.3838G>T NP_001394839.1:p.Gly1280Cys missense NM_001407915.1:c.3835G>T NP_001394844.1:p.Gly1279Cys missense NM_001407916.1:c.3835G>T NP_001394845.1:p.Gly1279Cys missense NM_001407917.1:c.3835G>T NP_001394846.1:p.Gly1279Cys missense NM_001407918.1:c.3835G>T NP_001394847.1:p.Gly1279Cys missense NM_001407919.1:c.3925G>T NP_001394848.1:p.Gly1309Cys missense NM_001407920.1:c.3784G>T NP_001394849.1:p.Gly1262Cys missense NM_001407921.1:c.3784G>T NP_001394850.1:p.Gly1262Cys missense NM_001407922.1:c.3784G>T NP_001394851.1:p.Gly1262Cys missense NM_001407923.1:c.3784G>T NP_001394852.1:p.Gly1262Cys missense NM_001407924.1:c.3784G>T NP_001394853.1:p.Gly1262Cys missense NM_001407925.1:c.3784G>T NP_001394854.1:p.Gly1262Cys missense NM_001407926.1:c.3784G>T NP_001394855.1:p.Gly1262Cys missense NM_001407927.1:c.3784G>T NP_001394856.1:p.Gly1262Cys missense NM_001407928.1:c.3784G>T NP_001394857.1:p.Gly1262Cys missense NM_001407929.1:c.3784G>T NP_001394858.1:p.Gly1262Cys missense NM_001407930.1:c.3781G>T NP_001394859.1:p.Gly1261Cys missense NM_001407931.1:c.3781G>T NP_001394860.1:p.Gly1261Cys missense NM_001407932.1:c.3781G>T NP_001394861.1:p.Gly1261Cys missense NM_001407933.1:c.3784G>T NP_001394862.1:p.Gly1262Cys missense NM_001407934.1:c.3781G>T NP_001394863.1:p.Gly1261Cys missense NM_001407935.1:c.3784G>T NP_001394864.1:p.Gly1262Cys missense NM_001407936.1:c.3781G>T NP_001394865.1:p.Gly1261Cys missense NM_001407937.1:c.3925G>T NP_001394866.1:p.Gly1309Cys missense NM_001407938.1:c.3925G>T NP_001394867.1:p.Gly1309Cys missense NM_001407939.1:c.3925G>T NP_001394868.1:p.Gly1309Cys missense NM_001407940.1:c.3922G>T NP_001394869.1:p.Gly1308Cys missense NM_001407941.1:c.3922G>T NP_001394870.1:p.Gly1308Cys missense NM_001407942.1:c.3907G>T NP_001394871.1:p.Gly1303Cys missense NM_001407943.1:c.3904G>T NP_001394872.1:p.Gly1302Cys missense NM_001407944.1:c.3907G>T NP_001394873.1:p.Gly1303Cys missense NM_001407945.1:c.3907G>T NP_001394874.1:p.Gly1303Cys missense NM_001407946.1:c.3715G>T NP_001394875.1:p.Gly1239Cys missense NM_001407947.1:c.3715G>T NP_001394876.1:p.Gly1239Cys missense NM_001407948.1:c.3715G>T NP_001394877.1:p.Gly1239Cys missense NM_001407949.1:c.3715G>T NP_001394878.1:p.Gly1239Cys missense NM_001407950.1:c.3715G>T NP_001394879.1:p.Gly1239Cys missense NM_001407951.1:c.3715G>T NP_001394880.1:p.Gly1239Cys missense NM_001407952.1:c.3715G>T NP_001394881.1:p.Gly1239Cys missense NM_001407953.1:c.3715G>T NP_001394882.1:p.Gly1239Cys missense NM_001407954.1:c.3712G>T NP_001394883.1:p.Gly1238Cys missense NM_001407955.1:c.3712G>T NP_001394884.1:p.Gly1238Cys missense NM_001407956.1:c.3712G>T NP_001394885.1:p.Gly1238Cys missense NM_001407957.1:c.3715G>T NP_001394886.1:p.Gly1239Cys missense NM_001407958.1:c.3712G>T NP_001394887.1:p.Gly1238Cys missense NM_001407959.1:c.3667G>T NP_001394888.1:p.Gly1223Cys missense NM_001407960.1:c.3667G>T NP_001394889.1:p.Gly1223Cys missense NM_001407962.1:c.3664G>T NP_001394891.1:p.Gly1222Cys missense NM_001407963.1:c.3667G>T NP_001394892.1:p.Gly1223Cys missense NM_001407964.1:c.3904G>T NP_001394893.1:p.Gly1302Cys missense NM_001407965.1:c.3544G>T NP_001394894.1:p.Gly1182Cys missense NM_001407966.1:c.3160G>T NP_001394895.1:p.Gly1054Cys missense NM_001407967.1:c.3160G>T NP_001394896.1:p.Gly1054Cys missense NM_001407968.1:c.1444G>T NP_001394897.1:p.Gly482Cys missense NM_001407969.1:c.1444G>T NP_001394898.1:p.Gly482Cys missense NM_001407970.1:c.788-451G>T intron variant NM_001407971.1:c.788-451G>T intron variant NM_001407972.1:c.785-451G>T intron variant NM_001407973.1:c.788-451G>T intron variant NM_001407974.1:c.788-451G>T intron variant NM_001407975.1:c.788-451G>T intron variant NM_001407976.1:c.788-451G>T intron variant NM_001407977.1:c.788-451G>T intron variant NM_001407978.1:c.788-451G>T intron variant NM_001407979.1:c.788-451G>T intron variant NM_001407980.1:c.788-451G>T intron variant NM_001407981.1:c.788-451G>T intron variant NM_001407982.1:c.788-451G>T intron variant NM_001407983.1:c.788-451G>T intron variant NM_001407984.1:c.785-451G>T intron variant NM_001407985.1:c.785-451G>T intron variant NM_001407986.1:c.785-451G>T intron variant NM_001407990.1:c.788-451G>T intron variant NM_001407991.1:c.785-451G>T intron variant NM_001407992.1:c.785-451G>T intron variant NM_001407993.1:c.788-451G>T intron variant NM_001408392.1:c.785-451G>T intron variant NM_001408396.1:c.785-451G>T intron variant NM_001408397.1:c.785-451G>T intron variant NM_001408398.1:c.785-451G>T intron variant NM_001408399.1:c.785-451G>T intron variant NM_001408400.1:c.785-451G>T intron variant NM_001408401.1:c.785-451G>T intron variant NM_001408402.1:c.785-451G>T intron variant NM_001408403.1:c.788-451G>T intron variant NM_001408404.1:c.788-451G>T intron variant NM_001408406.1:c.791-460G>T intron variant NM_001408407.1:c.785-451G>T intron variant NM_001408408.1:c.779-451G>T intron variant NM_001408409.1:c.710-451G>T intron variant NM_001408410.1:c.647-451G>T intron variant NM_001408411.1:c.710-451G>T intron variant NM_001408412.1:c.710-451G>T intron variant NM_001408413.1:c.707-451G>T intron variant NM_001408414.1:c.710-451G>T intron variant NM_001408415.1:c.710-451G>T intron variant NM_001408416.1:c.707-451G>T intron variant NM_001408418.1:c.671-451G>T intron variant NM_001408419.1:c.671-451G>T intron variant NM_001408420.1:c.671-451G>T intron variant NM_001408421.1:c.668-451G>T intron variant NM_001408422.1:c.671-451G>T intron variant NM_001408423.1:c.671-451G>T intron variant NM_001408424.1:c.668-451G>T intron variant NM_001408425.1:c.665-451G>T intron variant NM_001408426.1:c.665-451G>T intron variant NM_001408427.1:c.665-451G>T intron variant NM_001408428.1:c.665-451G>T intron variant NM_001408429.1:c.665-451G>T intron variant NM_001408430.1:c.665-451G>T intron variant NM_001408431.1:c.668-451G>T intron variant NM_001408432.1:c.662-451G>T intron variant NM_001408433.1:c.662-451G>T intron variant NM_001408434.1:c.662-451G>T intron variant NM_001408435.1:c.662-451G>T intron variant NM_001408436.1:c.665-451G>T intron variant NM_001408437.1:c.665-451G>T intron variant NM_001408438.1:c.665-451G>T intron variant NM_001408439.1:c.665-451G>T intron variant NM_001408440.1:c.665-451G>T intron variant NM_001408441.1:c.665-451G>T intron variant NM_001408442.1:c.665-451G>T intron variant NM_001408443.1:c.665-451G>T intron variant NM_001408444.1:c.665-451G>T intron variant NM_001408445.1:c.662-451G>T intron variant NM_001408446.1:c.662-451G>T intron variant NM_001408447.1:c.662-451G>T intron variant NM_001408448.1:c.662-451G>T intron variant NM_001408450.1:c.662-451G>T intron variant NM_001408451.1:c.653-451G>T intron variant NM_001408452.1:c.647-451G>T intron variant NM_001408453.1:c.647-451G>T intron variant NM_001408454.1:c.647-451G>T intron variant NM_001408455.1:c.647-451G>T intron variant NM_001408456.1:c.647-451G>T intron variant NM_001408457.1:c.647-451G>T intron variant NM_001408458.1:c.647-451G>T intron variant NM_001408459.1:c.647-451G>T intron variant NM_001408460.1:c.647-451G>T intron variant NM_001408461.1:c.647-451G>T intron variant NM_001408462.1:c.644-451G>T intron variant NM_001408463.1:c.644-451G>T intron variant NM_001408464.1:c.644-451G>T intron variant NM_001408465.1:c.644-451G>T intron variant NM_001408466.1:c.647-451G>T intron variant NM_001408467.1:c.647-451G>T intron variant NM_001408468.1:c.644-451G>T intron variant NM_001408469.1:c.647-451G>T intron variant NM_001408470.1:c.644-451G>T intron variant NM_001408472.1:c.788-451G>T intron variant NM_001408473.1:c.785-451G>T intron variant NM_001408474.1:c.587-451G>T intron variant NM_001408475.1:c.584-451G>T intron variant NM_001408476.1:c.587-451G>T intron variant NM_001408478.1:c.578-451G>T intron variant NM_001408479.1:c.578-451G>T intron variant NM_001408480.1:c.578-451G>T intron variant NM_001408481.1:c.578-451G>T intron variant NM_001408482.1:c.578-451G>T intron variant NM_001408483.1:c.578-451G>T intron variant NM_001408484.1:c.578-451G>T intron variant NM_001408485.1:c.578-451G>T intron variant NM_001408489.1:c.578-451G>T intron variant NM_001408490.1:c.575-451G>T intron variant NM_001408491.1:c.575-451G>T intron variant NM_001408492.1:c.578-451G>T intron variant NM_001408493.1:c.575-451G>T intron variant NM_001408494.1:c.548-451G>T intron variant NM_001408495.1:c.545-451G>T intron variant NM_001408496.1:c.524-451G>T intron variant NM_001408497.1:c.524-451G>T intron variant NM_001408498.1:c.524-451G>T intron variant NM_001408499.1:c.524-451G>T intron variant NM_001408500.1:c.524-451G>T intron variant NM_001408501.1:c.524-451G>T intron variant NM_001408502.1:c.455-451G>T intron variant NM_001408503.1:c.521-451G>T intron variant NM_001408504.1:c.521-451G>T intron variant NM_001408505.1:c.521-451G>T intron variant NM_001408506.1:c.461-451G>T intron variant NM_001408507.1:c.461-451G>T intron variant NM_001408508.1:c.452-451G>T intron variant NM_001408509.1:c.452-451G>T intron variant NM_001408510.1:c.407-451G>T intron variant NM_001408511.1:c.404-451G>T intron variant NM_001408512.1:c.284-451G>T intron variant NM_001408513.1:c.578-451G>T intron variant NM_001408514.1:c.578-451G>T intron variant NM_007297.4:c.3907G>T NP_009228.2:p.Gly1303Cys missense NM_007298.4:c.788-451G>T intron variant NM_007299.4:c.788-451G>T intron variant NM_007300.4:c.4048G>T NP_009231.2:p.Gly1350Cys missense NR_027676.1:n.4184G>T NC_000017.11:g.43091483C>A NC_000017.10:g.41243500C>A NG_005905.2:g.126501G>T NG_087068.1:g.465C>A LRG_292:g.126501G>T LRG_292t1:c.4048G>T LRG_292p1:p.Gly1350Cys - Protein change
- G1350C, G1303C, G1182C, G1222C, G1262C, G1308C, G1309C, G1347C, G1349C, G1223C, G1239C, G1282C, G1323C, G1324C, G1054C, G1238C, G1261C, G1279C, G1283C, G1302C, G482C, G1280C
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091482:C:A
-
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.
-
Exome Aggregation Consortium (ExAC) 0.00001
- 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. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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. |
|---|---|---|---|---|
| Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000214306.13 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Sep 5, 2022 | RCV000231203.10 | |
| Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
May 7, 2020 | RCV000486044.4 | |
| Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Mar 13, 2023 | RCV001800555.3 | |
| Uncertain significance (1) |
criteria provided, single submitter
|
Aug 15, 2023 | RCV003997909.2 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Feb 19, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000571145.5
First in ClinVar: Apr 29, 2017 Last updated: Apr 29, 2017 |
Comment:
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; … (more)
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.4167G>T (less)
|
|
|
Uncertain significance
(Jan 25, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV002046613.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
|
|
|
Uncertain significance
(Apr 28, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001359353.2
First in ClinVar: Jun 22, 2020 Last updated: Jan 12, 2022 |
Comment:
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
|
Uncertain significance
(May 07, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not provided
Affected status: yes
Allele origin:
germline
|
AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002503286.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
|
|
|
Uncertain significance
(Sep 05, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000289791.8
First in ClinVar: Jul 01, 2016 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1350 of the BRCA1 protein … (more)
This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1350 of the BRCA1 protein (p.Gly1350Cys). This variant is present in population databases (rs748674194, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 231563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. (less)
|
|
|
Likely benign
(Mar 17, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000275453.6
First in ClinVar: May 29, 2016 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
|
|
Likely benign
(Mar 23, 2023)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003848458.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
|
|
Uncertain significance
(Mar 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV003923018.1
First in ClinVar: May 13, 2023 Last updated: May 13, 2023 |
Comment:
Variant summary: BRCA1 c.4048G>T (p.Gly1350Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.4048G>T (p.Gly1350Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251066 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4048G>T has been reported in the literature, without strong evidence for causality (Dong_2018). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. (less)
|
|
|
Uncertain Significance
(Aug 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004817713.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 1
|
Comment:
Comment:
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1350 of the BRCA1 protein (p.Gly1350Cys). This variant is present in population databases (rs748674194, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 231563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Comment:
Variant summary: BRCA1 c.4048G>T (p.Gly1350Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251066 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4048G>T has been reported in the literature, without strong evidence for causality (Dong_2018). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Comment:
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as 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:
In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as c.4167G>T
Comment:
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1350 of the BRCA1 protein (p.Gly1350Cys). This variant is present in population databases (rs748674194, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 231563). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Comment:
Variant summary: BRCA1 c.4048G>T (p.Gly1350Cys) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251066 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4048G>T has been reported in the literature, without strong evidence for causality (Dong_2018). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Comment:
This missense variant replaces glycine with cysteine at codon 1350 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 5/251066 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population. | Dong H | Journal of medical genetics | 2021 | PMID: 32467295 |
| Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
| Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing. | Dong L | Human mutation | 2018 | PMID: 30039884 |
Text-mined citations for rs748674194 ...
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Record last updated Oct 08, 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.