Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5137del (p.Trp1712_Val1713insTer)
Variation ID: 55411 Accession: VCV000055411.31
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43063889 (GRCh38) [ NCBI UCSC ] 17: 41215906 (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 May 1, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5137del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Trp1712_Val1713insTer nonsense NM_001407571.1:c.4922delG NP_001394500.1:p.Val1642Terfs frameshift nonsense NM_001407581.1:c.5201delG NP_001394510.1:p.Val1735Terfs frameshift nonsense NM_001407582.1:c.5201delG NP_001394511.1:p.Val1735Terfs frameshift nonsense NM_001407583.1:c.5198delG NP_001394512.1:p.Val1734Terfs frameshift nonsense NM_001407585.1:c.5198delG NP_001394514.1:p.Val1734Terfs frameshift nonsense NM_001407587.1:c.5198delG NP_001394516.1:p.Val1734Terfs frameshift nonsense NM_001407590.1:c.5195delG NP_001394519.1:p.Val1733Terfs frameshift nonsense NM_001407591.1:c.5195delG NP_001394520.1:p.Val1733Terfs frameshift nonsense NM_001407593.1:c.5135delG NP_001394522.1:p.Val1713Terfs frameshift nonsense NM_001407594.1:c.5135delG NP_001394523.1:p.Val1713Terfs frameshift nonsense NM_001407596.1:c.5135delG NP_001394525.1:p.Val1713Terfs frameshift nonsense NM_001407597.1:c.5135delG NP_001394526.1:p.Val1713Terfs frameshift nonsense NM_001407598.1:c.5135delG NP_001394527.1:p.Val1713Terfs frameshift nonsense NM_001407602.1:c.5135delG NP_001394531.1:p.Val1713Terfs frameshift nonsense NM_001407603.1:c.5135delG NP_001394532.1:p.Val1713Terfs frameshift nonsense NM_001407605.1:c.5135delG NP_001394534.1:p.Val1713Terfs frameshift nonsense NM_001407610.1:c.5132delG NP_001394539.1:p.Val1712Terfs frameshift nonsense NM_001407611.1:c.5132delG NP_001394540.1:p.Val1712Terfs frameshift nonsense NM_001407612.1:c.5132delG NP_001394541.1:p.Val1712Terfs frameshift nonsense NM_001407613.1:c.5132delG NP_001394542.1:p.Val1712Terfs frameshift nonsense NM_001407614.1:c.5132delG NP_001394543.1:p.Val1712Terfs frameshift nonsense NM_001407615.1:c.5132delG NP_001394544.1:p.Val1712Terfs frameshift nonsense NM_001407616.1:c.5132delG NP_001394545.1:p.Val1712Terfs frameshift nonsense NM_001407617.1:c.5132delG NP_001394546.1:p.Val1712Terfs frameshift nonsense NM_001407618.1:c.5132delG NP_001394547.1:p.Val1712Terfs frameshift nonsense NM_001407619.1:c.5132delG NP_001394548.1:p.Val1712Terfs frameshift nonsense NM_001407620.1:c.5132delG NP_001394549.1:p.Val1712Terfs frameshift nonsense NM_001407621.1:c.5132delG NP_001394550.1:p.Val1712Terfs frameshift nonsense NM_001407622.1:c.5132delG NP_001394551.1:p.Val1712Terfs frameshift nonsense NM_001407623.1:c.5132delG NP_001394552.1:p.Val1712Terfs frameshift nonsense NM_001407624.1:c.5132delG NP_001394553.1:p.Val1712Terfs frameshift nonsense NM_001407625.1:c.5132delG NP_001394554.1:p.Val1712Terfs frameshift nonsense NM_001407626.1:c.5132delG NP_001394555.1:p.Val1712Terfs frameshift nonsense NM_001407627.1:c.5129delG NP_001394556.1:p.Val1711Terfs frameshift nonsense NM_001407628.1:c.5129delG NP_001394557.1:p.Val1711Terfs frameshift nonsense NM_001407629.1:c.5129delG NP_001394558.1:p.Val1711Terfs frameshift nonsense NM_001407630.1:c.5129delG NP_001394559.1:p.Val1711Terfs frameshift nonsense NM_001407631.1:c.5129delG NP_001394560.1:p.Val1711Terfs frameshift nonsense NM_001407632.1:c.5129delG NP_001394561.1:p.Val1711Terfs frameshift nonsense NM_001407633.1:c.5129delG NP_001394562.1:p.Val1711Terfs frameshift nonsense NM_001407634.1:c.5129delG NP_001394563.1:p.Val1711Terfs frameshift nonsense NM_001407635.1:c.5129delG NP_001394564.1:p.Val1711Terfs frameshift nonsense NM_001407636.1:c.5129delG NP_001394565.1:p.Val1711Terfs frameshift nonsense NM_001407637.1:c.5129delG NP_001394566.1:p.Val1711Terfs frameshift nonsense NM_001407638.1:c.5129delG NP_001394567.1:p.Val1711Terfs frameshift nonsense NM_001407639.1:c.5129delG NP_001394568.1:p.Val1711Terfs frameshift nonsense NM_001407640.1:c.5129delG NP_001394569.1:p.Val1711Terfs frameshift nonsense NM_001407641.1:c.5129delG NP_001394570.1:p.Val1711Terfs frameshift nonsense NM_001407642.1:c.5129delG NP_001394571.1:p.Val1711Terfs frameshift nonsense NM_001407644.1:c.5126delG NP_001394573.1:p.Val1710Terfs frameshift nonsense NM_001407645.1:c.5126delG NP_001394574.1:p.Val1710Terfs frameshift nonsense NM_001407646.1:c.5123delG NP_001394575.1:p.Val1709Terfs frameshift nonsense NM_001407647.1:c.5120delG NP_001394576.1:p.Val1708Terfs frameshift nonsense NM_001407648.1:c.5078delG NP_001394577.1:p.Val1694Terfs frameshift nonsense NM_001407649.1:c.5075delG NP_001394578.1:p.Val1693Terfs frameshift nonsense NM_001407653.1:c.5057delG NP_001394582.1:p.Val1687Terfs frameshift nonsense NM_001407654.1:c.5057delG NP_001394583.1:p.Val1687Terfs frameshift nonsense NM_001407655.1:c.5057delG NP_001394584.1:p.Val1687Terfs frameshift nonsense NM_001407656.1:c.5054delG NP_001394585.1:p.Val1686Terfs frameshift nonsense NM_001407657.1:c.5054delG NP_001394586.1:p.Val1686Terfs frameshift nonsense NM_001407658.1:c.5054delG NP_001394587.1:p.Val1686Terfs frameshift nonsense NM_001407659.1:c.5051delG NP_001394588.1:p.Val1685Terfs frameshift nonsense NM_001407660.1:c.5051delG NP_001394589.1:p.Val1685Terfs frameshift nonsense NM_001407661.1:c.5051delG NP_001394590.1:p.Val1685Terfs frameshift nonsense NM_001407662.1:c.5051delG NP_001394591.1:p.Val1685Terfs frameshift nonsense NM_001407663.1:c.5051delG NP_001394592.1:p.Val1685Terfs frameshift nonsense NM_001407664.1:c.5012delG NP_001394593.1:p.Val1672Terfs frameshift nonsense NM_001407665.1:c.5012delG NP_001394594.1:p.Val1672Terfs frameshift nonsense NM_001407666.1:c.5012delG NP_001394595.1:p.Val1672Terfs frameshift nonsense NM_001407667.1:c.5012delG NP_001394596.1:p.Val1672Terfs frameshift nonsense NM_001407668.1:c.5012delG NP_001394597.1:p.Val1672Terfs frameshift nonsense NM_001407669.1:c.5012delG NP_001394598.1:p.Val1672Terfs frameshift nonsense NM_001407670.1:c.5009delG NP_001394599.1:p.Val1671Terfs frameshift nonsense NM_001407671.1:c.5009delG NP_001394600.1:p.Val1671Terfs frameshift nonsense NM_001407672.1:c.5009delG NP_001394601.1:p.Val1671Terfs frameshift nonsense NM_001407673.1:c.5009delG NP_001394602.1:p.Val1671Terfs frameshift nonsense NM_001407674.1:c.5009delG NP_001394603.1:p.Val1671Terfs frameshift nonsense NM_001407675.1:c.5009delG NP_001394604.1:p.Val1671Terfs frameshift nonsense NM_001407676.1:c.5009delG NP_001394605.1:p.Val1671Terfs frameshift nonsense NM_001407677.1:c.5009delG NP_001394606.1:p.Val1671Terfs frameshift nonsense NM_001407678.1:c.5009delG NP_001394607.1:p.Val1671Terfs frameshift nonsense NM_001407679.1:c.5009delG NP_001394608.1:p.Val1671Terfs frameshift nonsense NM_001407680.1:c.5009delG NP_001394609.1:p.Val1671Terfs frameshift nonsense NM_001407681.1:c.5006delG NP_001394610.1:p.Val1670Terfs frameshift nonsense NM_001407682.1:c.5006delG NP_001394611.1:p.Val1670Terfs frameshift nonsense NM_001407683.1:c.5006delG NP_001394612.1:p.Val1670Terfs frameshift nonsense NM_001407684.1:c.5135delG NP_001394613.1:p.Val1713Terfs frameshift nonsense NM_001407685.1:c.5006delG NP_001394614.1:p.Val1670Terfs frameshift nonsense NM_001407686.1:c.5006delG NP_001394615.1:p.Val1670Terfs frameshift nonsense NM_001407687.1:c.5006delG NP_001394616.1:p.Val1670Terfs frameshift nonsense NM_001407688.1:c.5006delG NP_001394617.1:p.Val1670Terfs frameshift nonsense NM_001407689.1:c.5006delG NP_001394618.1:p.Val1670Terfs frameshift nonsense NM_001407690.1:c.5003delG NP_001394619.1:p.Val1669Terfs frameshift nonsense NM_001407691.1:c.5003delG NP_001394620.1:p.Val1669Terfs frameshift nonsense NM_001407692.1:c.4994delG NP_001394621.1:p.Val1666Terfs frameshift nonsense NM_001407694.1:c.4994delG NP_001394623.1:p.Val1666Terfs frameshift nonsense NM_001407695.1:c.4994delG NP_001394624.1:p.Val1666Terfs frameshift nonsense NM_001407696.1:c.4994delG NP_001394625.1:p.Val1666Terfs frameshift nonsense NM_001407697.1:c.4994delG NP_001394626.1:p.Val1666Terfs frameshift nonsense NM_001407698.1:c.4994delG NP_001394627.1:p.Val1666Terfs frameshift nonsense NM_001407724.1:c.4994delG NP_001394653.1:p.Val1666Terfs frameshift nonsense NM_001407725.1:c.4994delG NP_001394654.1:p.Val1666Terfs frameshift nonsense NM_001407726.1:c.4994delG NP_001394655.1:p.Val1666Terfs frameshift nonsense NM_001407727.1:c.4994delG NP_001394656.1:p.Val1666Terfs frameshift nonsense NM_001407728.1:c.4994delG NP_001394657.1:p.Val1666Terfs frameshift nonsense NM_001407729.1:c.4994delG NP_001394658.1:p.Val1666Terfs frameshift nonsense NM_001407730.1:c.4994delG NP_001394659.1:p.Val1666Terfs frameshift nonsense NM_001407731.1:c.4994delG NP_001394660.1:p.Val1666Terfs frameshift nonsense NM_001407732.1:c.4991delG NP_001394661.1:p.Val1665Terfs frameshift nonsense NM_001407733.1:c.4991delG NP_001394662.1:p.Val1665Terfs frameshift nonsense NM_001407734.1:c.4991delG NP_001394663.1:p.Val1665Terfs frameshift nonsense NM_001407735.1:c.4991delG NP_001394664.1:p.Val1665Terfs frameshift nonsense NM_001407736.1:c.4991delG NP_001394665.1:p.Val1665Terfs frameshift nonsense NM_001407737.1:c.4991delG NP_001394666.1:p.Val1665Terfs frameshift nonsense NM_001407738.1:c.4991delG NP_001394667.1:p.Val1665Terfs frameshift nonsense NM_001407739.1:c.4991delG NP_001394668.1:p.Val1665Terfs frameshift nonsense NM_001407740.1:c.4991delG NP_001394669.1:p.Val1665Terfs frameshift nonsense NM_001407741.1:c.4991delG NP_001394670.1:p.Val1665Terfs frameshift nonsense NM_001407742.1:c.4991delG NP_001394671.1:p.Val1665Terfs frameshift nonsense NM_001407743.1:c.4991delG NP_001394672.1:p.Val1665Terfs frameshift nonsense NM_001407744.1:c.4991delG NP_001394673.1:p.Val1665Terfs frameshift nonsense NM_001407745.1:c.4991delG NP_001394674.1:p.Val1665Terfs frameshift nonsense NM_001407746.1:c.4991delG NP_001394675.1:p.Val1665Terfs frameshift nonsense NM_001407747.1:c.4991delG NP_001394676.1:p.Val1665Terfs frameshift nonsense NM_001407748.1:c.4991delG NP_001394677.1:p.Val1665Terfs frameshift nonsense NM_001407749.1:c.4991delG NP_001394678.1:p.Val1665Terfs frameshift nonsense NM_001407750.1:c.4991delG NP_001394679.1:p.Val1665Terfs frameshift nonsense NM_001407751.1:c.4991delG NP_001394680.1:p.Val1665Terfs frameshift nonsense NM_001407752.1:c.4991delG NP_001394681.1:p.Val1665Terfs frameshift nonsense NM_001407838.1:c.4988delG NP_001394767.1:p.Val1664Terfs frameshift nonsense NM_001407839.1:c.4988delG NP_001394768.1:p.Val1664Terfs frameshift nonsense NM_001407841.1:c.4988delG NP_001394770.1:p.Val1664Terfs frameshift nonsense NM_001407842.1:c.4988delG NP_001394771.1:p.Val1664Terfs frameshift nonsense NM_001407843.1:c.4988delG NP_001394772.1:p.Val1664Terfs frameshift nonsense NM_001407844.1:c.4988delG NP_001394773.1:p.Val1664Terfs frameshift nonsense NM_001407845.1:c.4988delG NP_001394774.1:p.Val1664Terfs frameshift nonsense NM_001407846.1:c.4988delG NP_001394775.1:p.Val1664Terfs frameshift nonsense NM_001407847.1:c.4988delG NP_001394776.1:p.Val1664Terfs frameshift nonsense NM_001407848.1:c.4988delG NP_001394777.1:p.Val1664Terfs frameshift nonsense NM_001407849.1:c.4988delG NP_001394778.1:p.Val1664Terfs frameshift nonsense NM_001407850.1:c.4988delG NP_001394779.1:p.Val1664Terfs frameshift nonsense NM_001407851.1:c.4988delG NP_001394780.1:p.Val1664Terfs frameshift nonsense NM_001407852.1:c.4988delG NP_001394781.1:p.Val1664Terfs frameshift nonsense NM_001407853.1:c.4988delG NP_001394782.1:p.Val1664Terfs frameshift nonsense NM_001407854.1:c.5135delG NP_001394783.1:p.Val1713Terfs frameshift nonsense NM_001407858.1:c.5132delG NP_001394787.1:p.Val1712Terfs frameshift nonsense NM_001407859.1:c.5132delG NP_001394788.1:p.Val1712Terfs frameshift nonsense NM_001407860.1:c.5132delG NP_001394789.1:p.Val1712Terfs frameshift nonsense NM_001407861.1:c.5129delG NP_001394790.1:p.Val1711Terfs frameshift nonsense NM_001407862.1:c.4934delG NP_001394791.1:p.Val1646Terfs frameshift nonsense NM_001407874.1:c.4928delG NP_001394803.1:p.Val1644Terfs frameshift nonsense NM_001407875.1:c.4928delG NP_001394804.1:p.Val1644Terfs frameshift nonsense NM_001407879.1:c.4925delG NP_001394808.1:p.Val1643Terfs frameshift nonsense NM_001407881.1:c.4925delG NP_001394810.1:p.Val1643Terfs frameshift nonsense NM_001407882.1:c.4925delG NP_001394811.1:p.Val1643Terfs frameshift nonsense NM_001407884.1:c.4925delG NP_001394813.1:p.Val1643Terfs frameshift nonsense NM_001407885.1:c.4925delG NP_001394814.1:p.Val1643Terfs frameshift nonsense NM_001407886.1:c.4925delG NP_001394815.1:p.Val1643Terfs frameshift nonsense NM_001407887.1:c.4925delG NP_001394816.1:p.Val1643Terfs frameshift nonsense NM_001407889.1:c.4925delG NP_001394818.1:p.Val1643Terfs frameshift nonsense NM_001407894.1:c.4922delG NP_001394823.1:p.Val1642Terfs frameshift nonsense NM_001407895.1:c.4922delG NP_001394824.1:p.Val1642Terfs frameshift nonsense NM_001407896.1:c.4922delG NP_001394825.1:p.Val1642Terfs frameshift nonsense NM_001407897.1:c.4922delG NP_001394826.1:p.Val1642Terfs frameshift nonsense NM_001407898.1:c.4922delG NP_001394827.1:p.Val1642Terfs frameshift nonsense NM_001407899.1:c.4922delG NP_001394828.1:p.Val1642Terfs frameshift nonsense NM_001407900.1:c.4922delG NP_001394829.1:p.Val1642Terfs frameshift nonsense NM_001407902.1:c.4922delG NP_001394831.1:p.Val1642Terfs frameshift nonsense NM_001407904.1:c.4922delG NP_001394833.1:p.Val1642Terfs frameshift nonsense NM_001407906.1:c.4922delG NP_001394835.1:p.Val1642Terfs frameshift nonsense NM_001407907.1:c.4922delG NP_001394836.1:p.Val1642Terfs frameshift nonsense NM_001407908.1:c.4922delG NP_001394837.1:p.Val1642Terfs frameshift nonsense NM_001407909.1:c.4922delG NP_001394838.1:p.Val1642Terfs frameshift nonsense NM_001407910.1:c.4922delG NP_001394839.1:p.Val1642Terfs frameshift nonsense NM_001407915.1:c.4919delG NP_001394844.1:p.Val1641Terfs frameshift nonsense NM_001407916.1:c.4919delG NP_001394845.1:p.Val1641Terfs frameshift nonsense NM_001407917.1:c.4919delG NP_001394846.1:p.Val1641Terfs frameshift nonsense NM_001407918.1:c.4919delG NP_001394847.1:p.Val1641Terfs frameshift nonsense NM_001407919.1:c.5012delG NP_001394848.1:p.Val1672Terfs frameshift nonsense NM_001407920.1:c.4871delG NP_001394849.1:p.Val1625Terfs frameshift nonsense NM_001407921.1:c.4871delG NP_001394850.1:p.Val1625Terfs frameshift nonsense NM_001407922.1:c.4871delG NP_001394851.1:p.Val1625Terfs frameshift nonsense NM_001407923.1:c.4871delG NP_001394852.1:p.Val1625Terfs frameshift nonsense NM_001407924.1:c.4871delG NP_001394853.1:p.Val1625Terfs frameshift nonsense NM_001407925.1:c.4871delG NP_001394854.1:p.Val1625Terfs frameshift nonsense NM_001407926.1:c.4871delG NP_001394855.1:p.Val1625Terfs frameshift nonsense NM_001407927.1:c.4868delG NP_001394856.1:p.Val1624Terfs frameshift nonsense NM_001407928.1:c.4868delG NP_001394857.1:p.Val1624Terfs frameshift nonsense NM_001407929.1:c.4868delG NP_001394858.1:p.Val1624Terfs frameshift nonsense NM_001407930.1:c.4868delG NP_001394859.1:p.Val1624Terfs frameshift nonsense NM_001407931.1:c.4868delG NP_001394860.1:p.Val1624Terfs frameshift nonsense NM_001407932.1:c.4868delG NP_001394861.1:p.Val1624Terfs frameshift nonsense NM_001407933.1:c.4868delG NP_001394862.1:p.Val1624Terfs frameshift nonsense NM_001407934.1:c.4865delG NP_001394863.1:p.Val1623Terfs frameshift nonsense NM_001407935.1:c.4865delG NP_001394864.1:p.Val1623Terfs frameshift nonsense NM_001407936.1:c.4865delG NP_001394865.1:p.Val1623Terfs frameshift nonsense NM_001407937.1:c.5012delG NP_001394866.1:p.Val1672Terfs frameshift nonsense NM_001407938.1:c.5012delG NP_001394867.1:p.Val1672Terfs frameshift nonsense NM_001407939.1:c.5009delG NP_001394868.1:p.Val1671Terfs frameshift nonsense NM_001407940.1:c.5009delG NP_001394869.1:p.Val1671Terfs frameshift nonsense NM_001407941.1:c.5006delG NP_001394870.1:p.Val1670Terfs frameshift nonsense NM_001407942.1:c.4994delG NP_001394871.1:p.Val1666Terfs frameshift nonsense NM_001407943.1:c.4991delG NP_001394872.1:p.Val1665Terfs frameshift nonsense NM_001407944.1:c.4991delG NP_001394873.1:p.Val1665Terfs frameshift nonsense NM_001407945.1:c.4991delG NP_001394874.1:p.Val1665Terfs frameshift nonsense NM_001407946.1:c.4802delG NP_001394875.1:p.Val1602Terfs frameshift nonsense NM_001407947.1:c.4802delG NP_001394876.1:p.Val1602Terfs frameshift nonsense NM_001407948.1:c.4802delG NP_001394877.1:p.Val1602Terfs frameshift nonsense NM_001407949.1:c.4802delG NP_001394878.1:p.Val1602Terfs frameshift nonsense NM_001407950.1:c.4799delG NP_001394879.1:p.Val1601Terfs frameshift nonsense NM_001407951.1:c.4799delG NP_001394880.1:p.Val1601Terfs frameshift nonsense NM_001407952.1:c.4799delG NP_001394881.1:p.Val1601Terfs frameshift nonsense NM_001407953.1:c.4799delG NP_001394882.1:p.Val1601Terfs frameshift nonsense NM_001407954.1:c.4799delG NP_001394883.1:p.Val1601Terfs frameshift nonsense NM_001407955.1:c.4799delG NP_001394884.1:p.Val1601Terfs frameshift nonsense NM_001407956.1:c.4796delG NP_001394885.1:p.Val1600Terfs frameshift nonsense NM_001407957.1:c.4796delG NP_001394886.1:p.Val1600Terfs frameshift nonsense NM_001407958.1:c.4796delG NP_001394887.1:p.Val1600Terfs frameshift nonsense NM_001407959.1:c.4754delG NP_001394888.1:p.Val1586Terfs frameshift nonsense NM_001407960.1:c.4751delG NP_001394889.1:p.Val1585Terfs frameshift nonsense NM_001407962.1:c.4751delG NP_001394891.1:p.Val1585Terfs frameshift nonsense NM_001407963.1:c.4748delG NP_001394892.1:p.Val1584Terfs frameshift nonsense NM_001407964.1:c.4673delG NP_001394893.1:p.Val1559Terfs frameshift nonsense NM_001407965.1:c.4628delG NP_001394894.1:p.Val1544Terfs frameshift nonsense NM_001407966.1:c.4247delG NP_001394895.1:p.Val1417Terfs frameshift nonsense NM_001407967.1:c.4244delG NP_001394896.1:p.Val1416Terfs frameshift nonsense NM_001407968.1:c.2531delG NP_001394897.1:p.Val845Terfs frameshift nonsense NM_001407969.1:c.2528delG NP_001394898.1:p.Val844Terfs frameshift nonsense NM_001407970.1:c.1892delG NP_001394899.1:p.Val632Terfs frameshift nonsense NM_001407971.1:c.1892delG NP_001394900.1:p.Val632Terfs frameshift nonsense NM_001407972.1:c.1889delG NP_001394901.1:p.Val631Terfs frameshift nonsense NM_001407973.1:c.1826delG NP_001394902.1:p.Val610Terfs frameshift nonsense NM_001407974.1:c.1826delG NP_001394903.1:p.Val610Terfs frameshift nonsense NM_001407975.1:c.1826delG NP_001394904.1:p.Val610Terfs frameshift nonsense NM_001407976.1:c.1826delG NP_001394905.1:p.Val610Terfs frameshift nonsense NM_001407977.1:c.1826delG NP_001394906.1:p.Val610Terfs frameshift nonsense NM_001407978.1:c.1826delG NP_001394907.1:p.Val610Terfs frameshift nonsense NM_001407979.1:c.1823delG NP_001394908.1:p.Val609Terfs frameshift nonsense NM_001407980.1:c.1823delG NP_001394909.1:p.Val609Terfs frameshift nonsense NM_001407981.1:c.1823delG NP_001394910.1:p.Val609Terfs frameshift nonsense NM_001407982.1:c.1823delG NP_001394911.1:p.Val609Terfs frameshift nonsense NM_001407983.1:c.1823delG NP_001394912.1:p.Val609Terfs frameshift nonsense NM_001407984.1:c.1823delG NP_001394913.1:p.Val609Terfs frameshift nonsense NM_001407985.1:c.1823delG NP_001394914.1:p.Val609Terfs frameshift nonsense NM_001407986.1:c.1823delG NP_001394915.1:p.Val609Terfs frameshift nonsense NM_001407990.1:c.1823delG NP_001394919.1:p.Val609Terfs frameshift nonsense NM_001407991.1:c.1823delG NP_001394920.1:p.Val609Terfs frameshift nonsense NM_001407992.1:c.1823delG NP_001394921.1:p.Val609Terfs frameshift nonsense NM_001407993.1:c.1823delG NP_001394922.1:p.Val609Terfs frameshift nonsense NM_001408392.1:c.1820delG NP_001395321.1:p.Val608Terfs frameshift nonsense NM_001408396.1:c.1820delG NP_001395325.1:p.Val608Terfs frameshift nonsense NM_001408397.1:c.1820delG NP_001395326.1:p.Val608Terfs frameshift nonsense NM_001408398.1:c.1820delG NP_001395327.1:p.Val608Terfs frameshift nonsense NM_001408399.1:c.1820delG NP_001395328.1:p.Val608Terfs frameshift nonsense NM_001408400.1:c.1820delG NP_001395329.1:p.Val608Terfs frameshift nonsense NM_001408401.1:c.1820delG NP_001395330.1:p.Val608Terfs frameshift nonsense NM_001408402.1:c.1820delG NP_001395331.1:p.Val608Terfs frameshift nonsense NM_001408403.1:c.1820delG NP_001395332.1:p.Val608Terfs frameshift nonsense NM_001408404.1:c.1820delG NP_001395333.1:p.Val608Terfs frameshift nonsense NM_001408406.1:c.1817delG NP_001395335.1:p.Val607Terfs frameshift nonsense NM_001408407.1:c.1817delG NP_001395336.1:p.Val607Terfs frameshift nonsense NM_001408408.1:c.1817delG NP_001395337.1:p.Val607Terfs frameshift nonsense NM_001408409.1:c.1814delG NP_001395338.1:p.Val606Terfs frameshift nonsense NM_001408410.1:c.1751delG NP_001395339.1:p.Val585Terfs frameshift nonsense NM_001408411.1:c.1748delG NP_001395340.1:p.Val584Terfs frameshift nonsense NM_001408412.1:c.1745delG NP_001395341.1:p.Val583Terfs frameshift nonsense NM_001408413.1:c.1745delG NP_001395342.1:p.Val583Terfs frameshift nonsense NM_001408414.1:c.1745delG NP_001395343.1:p.Val583Terfs frameshift nonsense NM_001408415.1:c.1745delG NP_001395344.1:p.Val583Terfs frameshift nonsense NM_001408416.1:c.1745delG NP_001395345.1:p.Val583Terfs frameshift nonsense NM_001408418.1:c.1709delG NP_001395347.1:p.Val571Terfs frameshift nonsense NM_001408419.1:c.1709delG NP_001395348.1:p.Val571Terfs frameshift nonsense NM_001408420.1:c.1709delG NP_001395349.1:p.Val571Terfs frameshift nonsense NM_001408421.1:c.1706delG NP_001395350.1:p.Val570Terfs frameshift nonsense NM_001408422.1:c.1706delG NP_001395351.1:p.Val570Terfs frameshift nonsense NM_001408423.1:c.1706delG NP_001395352.1:p.Val570Terfs frameshift nonsense NM_001408424.1:c.1706delG NP_001395353.1:p.Val570Terfs frameshift nonsense NM_001408425.1:c.1703delG NP_001395354.1:p.Val569Terfs frameshift nonsense NM_001408426.1:c.1703delG NP_001395355.1:p.Val569Terfs frameshift nonsense NM_001408427.1:c.1703delG NP_001395356.1:p.Val569Terfs frameshift nonsense NM_001408428.1:c.1703delG NP_001395357.1:p.Val569Terfs frameshift nonsense NM_001408429.1:c.1703delG NP_001395358.1:p.Val569Terfs frameshift nonsense NM_001408430.1:c.1703delG NP_001395359.1:p.Val569Terfs frameshift nonsense NM_001408431.1:c.1703delG NP_001395360.1:p.Val569Terfs frameshift nonsense NM_001408432.1:c.1700delG NP_001395361.1:p.Val568Terfs frameshift nonsense NM_001408433.1:c.1700delG NP_001395362.1:p.Val568Terfs frameshift nonsense NM_001408434.1:c.1700delG NP_001395363.1:p.Val568Terfs frameshift nonsense NM_001408435.1:c.1700delG NP_001395364.1:p.Val568Terfs frameshift nonsense NM_001408436.1:c.1700delG NP_001395365.1:p.Val568Terfs frameshift nonsense NM_001408437.1:c.1700delG NP_001395366.1:p.Val568Terfs frameshift nonsense NM_001408438.1:c.1700delG NP_001395367.1:p.Val568Terfs frameshift nonsense NM_001408439.1:c.1700delG NP_001395368.1:p.Val568Terfs frameshift nonsense NM_001408440.1:c.1700delG NP_001395369.1:p.Val568Terfs frameshift nonsense NM_001408441.1:c.1700delG NP_001395370.1:p.Val568Terfs frameshift nonsense NM_001408442.1:c.1700delG NP_001395371.1:p.Val568Terfs frameshift nonsense NM_001408443.1:c.1700delG NP_001395372.1:p.Val568Terfs frameshift nonsense NM_001408444.1:c.1700delG NP_001395373.1:p.Val568Terfs frameshift nonsense NM_001408445.1:c.1697delG NP_001395374.1:p.Val567Terfs frameshift nonsense NM_001408446.1:c.1697delG NP_001395375.1:p.Val567Terfs frameshift nonsense NM_001408447.1:c.1697delG NP_001395376.1:p.Val567Terfs frameshift nonsense NM_001408448.1:c.1697delG NP_001395377.1:p.Val567Terfs frameshift nonsense NM_001408450.1:c.1697delG NP_001395379.1:p.Val567Terfs frameshift nonsense NM_001408451.1:c.1691delG NP_001395380.1:p.Val565Terfs frameshift nonsense NM_001408452.1:c.1685delG NP_001395381.1:p.Val563Terfs frameshift nonsense NM_001408453.1:c.1685delG NP_001395382.1:p.Val563Terfs frameshift nonsense NM_001408454.1:c.1685delG NP_001395383.1:p.Val563Terfs frameshift nonsense NM_001408455.1:c.1685delG NP_001395384.1:p.Val563Terfs frameshift nonsense NM_001408456.1:c.1685delG NP_001395385.1:p.Val563Terfs frameshift nonsense NM_001408457.1:c.1685delG NP_001395386.1:p.Val563Terfs frameshift nonsense NM_001408458.1:c.1682delG NP_001395387.1:p.Val562Terfs frameshift nonsense NM_001408459.1:c.1682delG NP_001395388.1:p.Val562Terfs frameshift nonsense NM_001408460.1:c.1682delG NP_001395389.1:p.Val562Terfs frameshift nonsense NM_001408461.1:c.1682delG NP_001395390.1:p.Val562Terfs frameshift nonsense NM_001408462.1:c.1682delG NP_001395391.1:p.Val562Terfs frameshift nonsense NM_001408463.1:c.1682delG NP_001395392.1:p.Val562Terfs frameshift nonsense NM_001408464.1:c.1682delG NP_001395393.1:p.Val562Terfs frameshift nonsense NM_001408465.1:c.1682delG NP_001395394.1:p.Val562Terfs frameshift nonsense NM_001408466.1:c.1682delG NP_001395395.1:p.Val562Terfs frameshift nonsense NM_001408467.1:c.1682delG NP_001395396.1:p.Val562Terfs frameshift nonsense NM_001408468.1:c.1679delG NP_001395397.1:p.Val561Terfs frameshift nonsense NM_001408469.1:c.1679delG NP_001395398.1:p.Val561Terfs frameshift nonsense NM_001408470.1:c.1679delG NP_001395399.1:p.Val561Terfs frameshift nonsense NM_001408472.1:c.1823delG NP_001395401.1:p.Val609Terfs frameshift nonsense NM_001408473.1:c.1820delG NP_001395402.1:p.Val608Terfs frameshift nonsense NM_001408474.1:c.1625delG NP_001395403.1:p.Val543Terfs frameshift nonsense NM_001408475.1:c.1622delG NP_001395404.1:p.Val542Terfs frameshift nonsense NM_001408476.1:c.1622delG NP_001395405.1:p.Val542Terfs frameshift nonsense NM_001408478.1:c.1616delG NP_001395407.1:p.Val540Terfs frameshift nonsense NM_001408479.1:c.1616delG NP_001395408.1:p.Val540Terfs frameshift nonsense NM_001408480.1:c.1616delG NP_001395409.1:p.Val540Terfs frameshift nonsense NM_001408481.1:c.1613delG NP_001395410.1:p.Val539Terfs frameshift nonsense NM_001408482.1:c.1613delG NP_001395411.1:p.Val539Terfs frameshift nonsense NM_001408483.1:c.1613delG NP_001395412.1:p.Val539Terfs frameshift nonsense NM_001408484.1:c.1613delG NP_001395413.1:p.Val539Terfs frameshift nonsense NM_001408485.1:c.1613delG NP_001395414.1:p.Val539Terfs frameshift nonsense NM_001408489.1:c.1613delG NP_001395418.1:p.Val539Terfs frameshift nonsense NM_001408490.1:c.1613delG NP_001395419.1:p.Val539Terfs frameshift nonsense NM_001408491.1:c.1613delG NP_001395420.1:p.Val539Terfs frameshift nonsense NM_001408492.1:c.1610delG NP_001395421.1:p.Val538Terfs frameshift nonsense NM_001408493.1:c.1610delG NP_001395422.1:p.Val538Terfs frameshift nonsense NM_001408494.1:c.1586delG NP_001395423.1:p.Val530Terfs frameshift nonsense NM_001408495.1:c.1580delG NP_001395424.1:p.Val528Terfs frameshift nonsense NM_001408496.1:c.1562delG NP_001395425.1:p.Val522Terfs frameshift nonsense NM_001408497.1:c.1562delG NP_001395426.1:p.Val522Terfs frameshift nonsense NM_001408498.1:c.1562delG NP_001395427.1:p.Val522Terfs frameshift nonsense NM_001408499.1:c.1562delG NP_001395428.1:p.Val522Terfs frameshift nonsense NM_001408500.1:c.1562delG NP_001395429.1:p.Val522Terfs frameshift nonsense NM_001408501.1:c.1562delG NP_001395430.1:p.Val522Terfs frameshift nonsense NM_001408502.1:c.1559delG NP_001395431.1:p.Val521Terfs frameshift nonsense NM_001408503.1:c.1559delG NP_001395432.1:p.Val521Terfs frameshift nonsense NM_001408504.1:c.1559delG NP_001395433.1:p.Val521Terfs frameshift nonsense NM_001408505.1:c.1556delG NP_001395434.1:p.Val520Terfs frameshift nonsense NM_001408506.1:c.1499delG NP_001395435.1:p.Val501Terfs frameshift nonsense NM_001408507.1:c.1496delG NP_001395436.1:p.Val500Terfs frameshift nonsense NM_001408508.1:c.1487delG NP_001395437.1:p.Val497Terfs frameshift nonsense NM_001408509.1:c.1484delG NP_001395438.1:p.Val496Terfs frameshift nonsense NM_001408510.1:c.1445delG NP_001395439.1:p.Val483Terfs frameshift nonsense NM_001408511.1:c.1442delG NP_001395440.1:p.Val482Terfs frameshift nonsense NM_001408512.1:c.1322delG NP_001395441.1:p.Val442Terfs frameshift nonsense NM_001408513.1:c.1295delG NP_001395442.1:p.Val433Terfs frameshift nonsense NM_001408514.1:c.899delG NP_001395443.1:p.Val301Terfs frameshift nonsense NM_007294.3:c.5137delG frameshift nonsense NM_007297.4:c.4996del NP_009228.2:p.Trp1665_Val1666insTer nonsense NM_007298.4:c.1823delG NP_009229.2:p.Val609Terfs frameshift nonsense NM_007299.4:c.1825del NP_009230.2:p.Trp608_Val609insTer nonsense NM_007300.4:c.5200del NP_009231.2:p.Trp1733_Val1734insTer nonsense NM_007304.2:c.1823delG NP_009235.2:p.Val609Terfs frameshift nonsense NR_027676.2:n.5314del non-coding transcript variant NC_000017.11:g.43063891del NC_000017.10:g.41215908del NG_005905.2:g.154095del LRG_292:g.154095del LRG_292t1:c.5135del LRG_292p1:p.Val1713Terfs U14680.1:n.5256delG - Protein change
- -
- Other names
-
p.Val1713*
5256delG
- Canonical SPDI
- NC_000017.11:43063888:CCC:CC
-
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. |
|||
| 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 (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 27, 2024 | RCV000048807.28 | |
| Pathogenic (9) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000077601.23 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Sep 6, 2023 | RCV000235540.11 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Feb 16, 2023 | RCV000131392.19 | |
| Uncertain significance (1) |
no assertion criteria provided
|
- | RCV001358018.9 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000300209.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Jul 12, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
Accession: SCV000679697.1
First in ClinVar: Oct 21, 2017 Last updated: Oct 21, 2017 |
|
|
|
Pathogenic
(Mar 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000605766.2
First in ClinVar: Aug 05, 2017 Last updated: Dec 26, 2017 |
Comment:
The p.Val1713X variant in BRCA1 has been reported in >15 individuals with BRCA1- associated cancers and segregated with disease in >7 affected relatives (Struewi ng … (more)
The p.Val1713X variant in BRCA1 has been reported in >15 individuals with BRCA1- associated cancers and segregated with disease in >7 affected relatives (Struewi ng 1995, Monnerat 2007, Breast Cancer Information Core (BIC) database). It was a lso identified in 1/66198 European chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs80357997); however, this frequ ency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is a deletion of a single nucleotide, which generates a premature termination codon at position 17 13, which is predicted to lead to a truncated or absent protein. Heterozygous lo ss of function of the BRCA1 gene is an established disease mechanism in HBOC. Fu rthermore, this variant was classified as Pathogenic on September 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000300209.2). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. (less)
Number of individuals with the variant: 2
|
|
|
Pathogenic
(Dec 15, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296274.2
First in ClinVar: Sep 27, 2014 Last updated: Jan 03, 2022 |
Indication for testing: Hereditary breast and ovarian cancer syndrome (HBOC)
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326166.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Sep 29, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000677658.2
First in ClinVar: Jan 06, 2018 Last updated: Dec 24, 2022 |
|
|
|
Pathogenic
(Sep 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000292526.12
First in ClinVar: Jul 24, 2016 Last updated: Sep 14, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with BRCA1-related cancers (Struewing et al., 1995; Meindl et al., 2002; Monnerat et al., 2007; Lee et al., 2011; Kluska et al., 2015; Tung et al., 2016; Weren et al., 2016; Chan et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 5135delG, 5254delG, and 5256delG; This variant is associated with the following publications: (PMID: 22010008, 27767231, 17624602, 16267036, 25948282, 26843898, 28152038, 26976419, 30093976, 11802209, 7611277, 29625052, 30875412, 30787465, 26689913, 28888541, 29922827, 11597388, 15026808) (less)
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Pathogenic
(Aug 10, 2023)
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criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215031.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Mar 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
|
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV004224794.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
PP5, PM2, PVS1
Number of individuals with the variant: 1
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Pathogenic
(Jan 27, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076820.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Val1713*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Val1713*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357997, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast cancer, ovarian cancer, and male breast cancer (PMID: 7611277, 16683254, 25948282, 26976419, 27767231). It has also been observed to segregate with disease in related individuals. This variant is also known as 5256delG. ClinVar contains an entry for this variant (Variation ID: 55411). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Sep 21, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744597.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Pathogenic
(Dec 15, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001467835.1
First in ClinVar: Jan 09, 2021 Last updated: Jan 09, 2021 |
Comment:
Variant summary: BRCA1 c.5137delG (p.Val1713X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.5137delG (p.Val1713X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251322 control chromosomes (gnomAD). c.5137delG has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Struewing_1995, Vaziri_2001, Verhoog_2001, Judkins_2005, Couch_2015, Kluska_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Ten other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Feb 16, 2023)
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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: SCV000911169.3
First in ClinVar: May 20, 2019 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 17 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to … (more)
This variant deletes 1 nucleotide in exon 17 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals and families affected with breast and ovarian cancer (PMID: 7611277, 11139249, 11802209, 16683254, 17624602, 23192404, 25452441, 25948282, 26976419, 27767231, 30093976) and this variant co-segregated with breast and ovarian cancer in one family (PMID: 7611277). This variant has been identified in 1/251322 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Nov 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
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Ambry Genetics
Accession: SCV000186368.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.5137delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at position 5137. This changes … (more)
The c.5137delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at position 5137. This changes the amino acid from a valine to a stop codon (p.V1713*). This mutation (designated as 5256delG) has been reported in multiple cohorts of breast and/or ovarian cancer families, including in a male affected with both breast and prostate cancer; in an ovarian cancer patient whose tumor showed loss-of-heterozygosity; in 3 Dutch families and a Polish family with a history of breast and ovarian cancer; and in a female with breast cancer diagnosed at 31 who also had a family history of breast cancer, among other cancers (Struewing J et al. Am J Hum Genet. 1995 Jul;57(1):1-7; Weren RD et al. Hum. Mutat., 2017 Feb;38:226-235; van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Kluska A et al. BMC Med Genomics, 2015 May;8:19; Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145323.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 8
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Central/Eastern European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian Non Hispanic
Observation 5:
Number of individuals with the variant: 1
Ethnicity/Population group: Native American
Observation 6:
Number of individuals with the variant: 6
Ethnicity/Population group: Western European
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Western Europeanan, Central/Eastern European
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587469.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733597.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553649.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Number of individuals with the variant: 2
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Pathogenic
(May 01, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000109404.5
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Comment:
Comment:
The p.Val1713X variant in BRCA1 has been reported in >15 individuals with BRCA1- associated cancers and segregated with disease in >7 affected relatives (Struewi ng 1995, Monnerat 2007, Breast Cancer Information Core (BIC) database). It was a lso identified in 1/66198 European chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs80357997); however, this frequ ency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is a deletion of a single nucleotide, which generates a premature termination codon at position 17 13, which is predicted to lead to a truncated or absent protein. Heterozygous lo ss of function of the BRCA1 gene is an established disease mechanism in HBOC. Fu rthermore, this variant was classified as Pathogenic on September 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000300209.2). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with BRCA1-related cancers (Struewing et al., 1995; Meindl et al., 2002; Monnerat et al., 2007; Lee et al., 2011; Kluska et al., 2015; Tung et al., 2016; Weren et al., 2016; Chan et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 5135delG, 5254delG, and 5256delG; This variant is associated with the following publications: (PMID: 22010008, 27767231, 17624602, 16267036, 25948282, 26843898, 28152038, 26976419, 30093976, 11802209, 7611277, 29625052, 30875412, 30787465, 26689913, 28888541, 29922827, 11597388, 15026808)
Comment:
PP5, PM2, PVS1
Comment:
This sequence change creates a premature translational stop signal (p.Val1713*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357997, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast cancer, ovarian cancer, and male breast cancer (PMID: 7611277, 16683254, 25948282, 26976419, 27767231). It has also been observed to segregate with disease in related individuals. This variant is also known as 5256delG. ClinVar contains an entry for this variant (Variation ID: 55411). For these reasons, this variant has been classified as Pathogenic.
Comment:
Variant summary: BRCA1 c.5137delG (p.Val1713X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251322 control chromosomes (gnomAD). c.5137delG has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Struewing_1995, Vaziri_2001, Verhoog_2001, Judkins_2005, Couch_2015, Kluska_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Ten other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
This variant deletes 1 nucleotide in exon 17 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals and families affected with breast and ovarian cancer (PMID: 7611277, 11139249, 11802209, 16683254, 17624602, 23192404, 25452441, 25948282, 26976419, 27767231, 30093976) and this variant co-segregated with breast and ovarian cancer in one family (PMID: 7611277). This variant has been identified in 1/251322 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The c.5137delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at position 5137. This changes the amino acid from a valine to a stop codon (p.V1713*). This mutation (designated as 5256delG) has been reported in multiple cohorts of breast and/or ovarian cancer families, including in a male affected with both breast and prostate cancer; in an ovarian cancer patient whose tumor showed loss-of-heterozygosity; in 3 Dutch families and a Polish family with a history of breast and ovarian cancer; and in a female with breast cancer diagnosed at 31 who also had a family history of breast cancer, among other cancers (Struewing J et al. Am J Hum Genet. 1995 Jul;57(1):1-7; Weren RD et al. Hum. Mutat., 2017 Feb;38:226-235; van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Kluska A et al. BMC Med Genomics, 2015 May;8:19; Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
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:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
The p.Val1713X variant in BRCA1 has been reported in >15 individuals with BRCA1- associated cancers and segregated with disease in >7 affected relatives (Struewi ng 1995, Monnerat 2007, Breast Cancer Information Core (BIC) database). It was a lso identified in 1/66198 European chromosomes by the Exome Aggregation Consorti um (ExAC, http://exac.broadinstitute.org; dbSNP rs80357997); however, this frequ ency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This variant is a deletion of a single nucleotide, which generates a premature termination codon at position 17 13, which is predicted to lead to a truncated or absent protein. Heterozygous lo ss of function of the BRCA1 gene is an established disease mechanism in HBOC. Fu rthermore, this variant was classified as Pathogenic on September 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000300209.2). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with BRCA1-related cancers (Struewing et al., 1995; Meindl et al., 2002; Monnerat et al., 2007; Lee et al., 2011; Kluska et al., 2015; Tung et al., 2016; Weren et al., 2016; Chan et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 5135delG, 5254delG, and 5256delG; This variant is associated with the following publications: (PMID: 22010008, 27767231, 17624602, 16267036, 25948282, 26843898, 28152038, 26976419, 30093976, 11802209, 7611277, 29625052, 30875412, 30787465, 26689913, 28888541, 29922827, 11597388, 15026808)
Comment:
PP5, PM2, PVS1
Comment:
This sequence change creates a premature translational stop signal (p.Val1713*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80357997, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast cancer, ovarian cancer, and male breast cancer (PMID: 7611277, 16683254, 25948282, 26976419, 27767231). It has also been observed to segregate with disease in related individuals. This variant is also known as 5256delG. ClinVar contains an entry for this variant (Variation ID: 55411). For these reasons, this variant has been classified as Pathogenic.
Comment:
Variant summary: BRCA1 c.5137delG (p.Val1713X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251322 control chromosomes (gnomAD). c.5137delG has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Struewing_1995, Vaziri_2001, Verhoog_2001, Judkins_2005, Couch_2015, Kluska_2015). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Ten other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
This variant deletes 1 nucleotide in exon 17 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals and families affected with breast and ovarian cancer (PMID: 7611277, 11139249, 11802209, 16683254, 17624602, 23192404, 25452441, 25948282, 26976419, 27767231, 30093976) and this variant co-segregated with breast and ovarian cancer in one family (PMID: 7611277). This variant has been identified in 1/251322 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The c.5137delG pathogenic mutation, located in coding exon 16 of the BRCA1 gene, results from a deletion of one nucleotide at position 5137. This changes the amino acid from a valine to a stop codon (p.V1713*). This mutation (designated as 5256delG) has been reported in multiple cohorts of breast and/or ovarian cancer families, including in a male affected with both breast and prostate cancer; in an ovarian cancer patient whose tumor showed loss-of-heterozygosity; in 3 Dutch families and a Polish family with a history of breast and ovarian cancer; and in a female with breast cancer diagnosed at 31 who also had a family history of breast cancer, among other cancers (Struewing J et al. Am J Hum Genet. 1995 Jul;57(1):1-7; Weren RD et al. Hum. Mutat., 2017 Feb;38:226-235; van der Hout AH et al. Hum. Mutat., 2006 Jul;27:654-66; Kluska A et al. BMC Med Genomics, 2015 May;8:19; Tung N et al. J. Clin. Oncol., 2016 May;34:1460-8). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
| BRCA Testing by Single-Molecule Molecular Inversion Probes. | Neveling K | Clinical chemistry | 2017 | PMID: 27974384 |
| Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas. | Weren RD | Human mutation | 2017 | PMID: 27767231 |
| Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. | Tung N | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2016 | PMID: 26976419 |
| Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. | Wojcik P | Hereditary cancer in clinical practice | 2016 | PMID: 26843898 |
| New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. | Kluska A | BMC medical genomics | 2015 | PMID: 25948282 |
| Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | Couch FJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25452441 |
| Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. | Rummel S | Breast cancer research and treatment | 2013 | PMID: 23192404 |
| Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. | Michils G | The Journal of molecular diagnostics : JMD | 2012 | PMID: 23034506 |
| Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations. | Thompson JF | Genome research | 2012 | PMID: 21765009 |
| Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. | De Leeneer K | Human mutation | 2011 | PMID: 21305653 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
| BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma. | Monnerat C | Familial cancer | 2007 | PMID: 17624602 |
| A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
| Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
| 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 |
| Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | Verhoog LC | European journal of cancer (Oxford, England : 1990) | 2001 | PMID: 11597388 |
| Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families. | Vaziri SA | Human mutation | 2001 | PMID: 11139249 |
| Breast and prostate cancer: an analysis of common epidemiological, genetic, and biochemical features. | López-Otín C | Endocrine reviews | 1998 | PMID: 9715372 |
| Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. | Struewing JP | American journal of human genetics | 1995 | PMID: 7611277 |
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Text-mined citations for rs80357997 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
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.