ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)
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.
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5524_5531del (p.Val1842fs)
Variation ID: 252389 Accession: VCV000252389.6
- Type and length
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Deletion, 8 bp
- Location
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Cytogenetic: 17q21.31 17: 43045739-43045746 (GRCh38) [ NCBI UCSC ] 17: 41197756-41197763 (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 Aug 1, 2016 Feb 20, 2024 Dec 15, 2017 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5524_5531del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1842fs frameshift NM_001407571.1:c.5310_5317delTGTAGCAC NP_001394500.1:p.Val1771Leufs frameshift NM_001407581.1:c.5589_5596delTGTAGCAC NP_001394510.1:p.Val1864Leufs frameshift NM_001407582.1:c.5589_5596delTGTAGCAC NP_001394511.1:p.Val1864Leufs frameshift NM_001407583.1:c.5586_5593delTGTAGCAC NP_001394512.1:p.Val1863Leufs frameshift NM_001407585.1:c.5586_5593delTGTAGCAC NP_001394514.1:p.Val1863Leufs frameshift NM_001407587.1:c.5586_5593delTGTAGCAC NP_001394516.1:p.Val1863Leufs frameshift NM_001407590.1:c.5583_5590delTGTAGCAC NP_001394519.1:p.Val1862Leufs frameshift NM_001407591.1:c.5583_5590delTGTAGCAC NP_001394520.1:p.Val1862Leufs frameshift NM_001407593.1:c.5523_5530delTGTAGCAC NP_001394522.1:p.Val1842Leufs frameshift NM_001407594.1:c.5523_5530delTGTAGCAC NP_001394523.1:p.Val1842Leufs frameshift NM_001407596.1:c.5523_5530delTGTAGCAC NP_001394525.1:p.Val1842Leufs frameshift NM_001407597.1:c.5523_5530delTGTAGCAC NP_001394526.1:p.Val1842Leufs frameshift NM_001407598.1:c.5523_5530delTGTAGCAC NP_001394527.1:p.Val1842Leufs frameshift NM_001407602.1:c.5523_5530delTGTAGCAC NP_001394531.1:p.Val1842Leufs frameshift NM_001407603.1:c.5523_5530delTGTAGCAC NP_001394532.1:p.Val1842Leufs frameshift NM_001407605.1:c.5523_5530delTGTAGCAC NP_001394534.1:p.Val1842Leufs frameshift NM_001407610.1:c.5520_5527delTGTAGCAC NP_001394539.1:p.Val1841Leufs frameshift NM_001407611.1:c.5520_5527delTGTAGCAC NP_001394540.1:p.Val1841Leufs frameshift NM_001407612.1:c.5520_5527delTGTAGCAC NP_001394541.1:p.Val1841Leufs frameshift NM_001407613.1:c.5520_5527delTGTAGCAC NP_001394542.1:p.Val1841Leufs frameshift NM_001407614.1:c.5520_5527delTGTAGCAC NP_001394543.1:p.Val1841Leufs frameshift NM_001407615.1:c.5520_5527delTGTAGCAC NP_001394544.1:p.Val1841Leufs frameshift NM_001407616.1:c.5520_5527delTGTAGCAC NP_001394545.1:p.Val1841Leufs frameshift NM_001407617.1:c.5520_5527delTGTAGCAC NP_001394546.1:p.Val1841Leufs frameshift NM_001407618.1:c.5520_5527delTGTAGCAC NP_001394547.1:p.Val1841Leufs frameshift NM_001407619.1:c.5520_5527delTGTAGCAC NP_001394548.1:p.Val1841Leufs frameshift NM_001407620.1:c.5520_5527delTGTAGCAC NP_001394549.1:p.Val1841Leufs frameshift NM_001407621.1:c.5520_5527delTGTAGCAC NP_001394550.1:p.Val1841Leufs frameshift NM_001407622.1:c.5520_5527delTGTAGCAC NP_001394551.1:p.Val1841Leufs frameshift NM_001407623.1:c.5520_5527delTGTAGCAC NP_001394552.1:p.Val1841Leufs frameshift NM_001407624.1:c.5520_5527delTGTAGCAC NP_001394553.1:p.Val1841Leufs frameshift NM_001407625.1:c.5520_5527delTGTAGCAC NP_001394554.1:p.Val1841Leufs frameshift NM_001407626.1:c.5520_5527delTGTAGCAC NP_001394555.1:p.Val1841Leufs frameshift NM_001407627.1:c.5517_5524delTGTAGCAC NP_001394556.1:p.Val1840Leufs frameshift NM_001407628.1:c.5517_5524delTGTAGCAC NP_001394557.1:p.Val1840Leufs frameshift NM_001407629.1:c.5517_5524delTGTAGCAC NP_001394558.1:p.Val1840Leufs frameshift NM_001407630.1:c.5517_5524delTGTAGCAC NP_001394559.1:p.Val1840Leufs frameshift NM_001407631.1:c.5517_5524delTGTAGCAC NP_001394560.1:p.Val1840Leufs frameshift NM_001407632.1:c.5517_5524delTGTAGCAC NP_001394561.1:p.Val1840Leufs frameshift NM_001407633.1:c.5517_5524delTGTAGCAC NP_001394562.1:p.Val1840Leufs frameshift NM_001407634.1:c.5517_5524delTGTAGCAC NP_001394563.1:p.Val1840Leufs frameshift NM_001407635.1:c.5517_5524delTGTAGCAC NP_001394564.1:p.Val1840Leufs frameshift NM_001407636.1:c.5517_5524delTGTAGCAC NP_001394565.1:p.Val1840Leufs frameshift NM_001407637.1:c.5517_5524delTGTAGCAC NP_001394566.1:p.Val1840Leufs frameshift NM_001407638.1:c.5517_5524delTGTAGCAC NP_001394567.1:p.Val1840Leufs frameshift NM_001407639.1:c.5517_5524delTGTAGCAC NP_001394568.1:p.Val1840Leufs frameshift NM_001407640.1:c.5517_5524delTGTAGCAC NP_001394569.1:p.Val1840Leufs frameshift NM_001407641.1:c.5517_5524delTGTAGCAC NP_001394570.1:p.Val1840Leufs frameshift NM_001407642.1:c.5517_5524delTGTAGCAC NP_001394571.1:p.Val1840Leufs frameshift NM_001407644.1:c.5514_5521delTGTAGCAC NP_001394573.1:p.Val1839Leufs frameshift NM_001407645.1:c.5514_5521delTGTAGCAC NP_001394574.1:p.Val1839Leufs frameshift NM_001407646.1:c.5511_5518delTGTAGCAC NP_001394575.1:p.Val1838Leufs frameshift NM_001407647.1:c.5508_5515delTGTAGCAC NP_001394576.1:p.Val1837Leufs frameshift NM_001407648.1:c.5466_5473delTGTAGCAC NP_001394577.1:p.Val1823Leufs frameshift NM_001407649.1:c.5463_5470delTGTAGCAC NP_001394578.1:p.Val1822Leufs frameshift NM_001407652.1:c.5445_5452delTGTAGCAC NP_001394581.1:p.Val1816Leufs frameshift NM_001407653.1:c.5445_5452delTGTAGCAC NP_001394582.1:p.Val1816Leufs frameshift NM_001407654.1:c.5445_5452delTGTAGCAC NP_001394583.1:p.Val1816Leufs frameshift NM_001407655.1:c.5445_5452delTGTAGCAC NP_001394584.1:p.Val1816Leufs frameshift NM_001407656.1:c.5442_5449delTGTAGCAC NP_001394585.1:p.Val1815Leufs frameshift NM_001407657.1:c.5442_5449delTGTAGCAC NP_001394586.1:p.Val1815Leufs frameshift NM_001407658.1:c.5442_5449delTGTAGCAC NP_001394587.1:p.Val1815Leufs frameshift NM_001407659.1:c.5439_5446delTGTAGCAC NP_001394588.1:p.Val1814Leufs frameshift NM_001407660.1:c.5439_5446delTGTAGCAC NP_001394589.1:p.Val1814Leufs frameshift NM_001407661.1:c.5439_5446delTGTAGCAC NP_001394590.1:p.Val1814Leufs frameshift NM_001407662.1:c.5439_5446delTGTAGCAC NP_001394591.1:p.Val1814Leufs frameshift NM_001407663.1:c.5439_5446delTGTAGCAC NP_001394592.1:p.Val1814Leufs frameshift NM_001407664.1:c.5400_5407delTGTAGCAC NP_001394593.1:p.Val1801Leufs frameshift NM_001407665.1:c.5400_5407delTGTAGCAC NP_001394594.1:p.Val1801Leufs frameshift NM_001407666.1:c.5400_5407delTGTAGCAC NP_001394595.1:p.Val1801Leufs frameshift NM_001407667.1:c.5400_5407delTGTAGCAC NP_001394596.1:p.Val1801Leufs frameshift NM_001407668.1:c.5400_5407delTGTAGCAC NP_001394597.1:p.Val1801Leufs frameshift NM_001407669.1:c.5400_5407delTGTAGCAC NP_001394598.1:p.Val1801Leufs frameshift NM_001407670.1:c.5397_5404delTGTAGCAC NP_001394599.1:p.Val1800Leufs frameshift NM_001407671.1:c.5397_5404delTGTAGCAC NP_001394600.1:p.Val1800Leufs frameshift NM_001407672.1:c.5397_5404delTGTAGCAC NP_001394601.1:p.Val1800Leufs frameshift NM_001407673.1:c.5397_5404delTGTAGCAC NP_001394602.1:p.Val1800Leufs frameshift NM_001407674.1:c.5397_5404delTGTAGCAC NP_001394603.1:p.Val1800Leufs frameshift NM_001407675.1:c.5397_5404delTGTAGCAC NP_001394604.1:p.Val1800Leufs frameshift NM_001407676.1:c.5397_5404delTGTAGCAC NP_001394605.1:p.Val1800Leufs frameshift NM_001407677.1:c.5397_5404delTGTAGCAC NP_001394606.1:p.Val1800Leufs frameshift NM_001407678.1:c.5397_5404delTGTAGCAC NP_001394607.1:p.Val1800Leufs frameshift NM_001407679.1:c.5397_5404delTGTAGCAC NP_001394608.1:p.Val1800Leufs frameshift NM_001407680.1:c.5397_5404delTGTAGCAC NP_001394609.1:p.Val1800Leufs frameshift NM_001407681.1:c.5394_5401delTGTAGCAC NP_001394610.1:p.Val1799Leufs frameshift NM_001407682.1:c.5394_5401delTGTAGCAC NP_001394611.1:p.Val1799Leufs frameshift NM_001407683.1:c.5394_5401delTGTAGCAC NP_001394612.1:p.Val1799Leufs frameshift NM_001407684.1:c.5394_5401delTGTAGCAC NP_001394613.1:p.Val1799Leufs frameshift NM_001407685.1:c.5394_5401delTGTAGCAC NP_001394614.1:p.Val1799Leufs frameshift NM_001407686.1:c.5394_5401delTGTAGCAC NP_001394615.1:p.Val1799Leufs frameshift NM_001407687.1:c.5394_5401delTGTAGCAC NP_001394616.1:p.Val1799Leufs frameshift NM_001407688.1:c.5394_5401delTGTAGCAC NP_001394617.1:p.Val1799Leufs frameshift NM_001407689.1:c.5394_5401delTGTAGCAC NP_001394618.1:p.Val1799Leufs frameshift NM_001407690.1:c.5391_5398delTGTAGCAC NP_001394619.1:p.Val1798Leufs frameshift NM_001407691.1:c.5391_5398delTGTAGCAC NP_001394620.1:p.Val1798Leufs frameshift NM_001407692.1:c.5382_5389delTGTAGCAC NP_001394621.1:p.Val1795Leufs frameshift NM_001407694.1:c.5382_5389delTGTAGCAC NP_001394623.1:p.Val1795Leufs frameshift NM_001407695.1:c.5382_5389delTGTAGCAC NP_001394624.1:p.Val1795Leufs frameshift NM_001407696.1:c.5382_5389delTGTAGCAC NP_001394625.1:p.Val1795Leufs frameshift NM_001407697.1:c.5382_5389delTGTAGCAC NP_001394626.1:p.Val1795Leufs frameshift NM_001407698.1:c.5382_5389delTGTAGCAC NP_001394627.1:p.Val1795Leufs frameshift NM_001407724.1:c.5382_5389delTGTAGCAC NP_001394653.1:p.Val1795Leufs frameshift NM_001407725.1:c.5382_5389delTGTAGCAC NP_001394654.1:p.Val1795Leufs frameshift NM_001407726.1:c.5382_5389delTGTAGCAC NP_001394655.1:p.Val1795Leufs frameshift NM_001407727.1:c.5382_5389delTGTAGCAC NP_001394656.1:p.Val1795Leufs frameshift NM_001407728.1:c.5382_5389delTGTAGCAC NP_001394657.1:p.Val1795Leufs frameshift NM_001407729.1:c.5382_5389delTGTAGCAC NP_001394658.1:p.Val1795Leufs frameshift NM_001407730.1:c.5382_5389delTGTAGCAC NP_001394659.1:p.Val1795Leufs frameshift NM_001407731.1:c.5382_5389delTGTAGCAC NP_001394660.1:p.Val1795Leufs frameshift NM_001407732.1:c.5379_5386delTGTAGCAC NP_001394661.1:p.Val1794Leufs frameshift NM_001407733.1:c.5379_5386delTGTAGCAC NP_001394662.1:p.Val1794Leufs frameshift NM_001407734.1:c.5379_5386delTGTAGCAC NP_001394663.1:p.Val1794Leufs frameshift NM_001407735.1:c.5379_5386delTGTAGCAC NP_001394664.1:p.Val1794Leufs frameshift NM_001407736.1:c.5379_5386delTGTAGCAC NP_001394665.1:p.Val1794Leufs frameshift NM_001407737.1:c.5379_5386delTGTAGCAC NP_001394666.1:p.Val1794Leufs frameshift NM_001407738.1:c.5379_5386delTGTAGCAC NP_001394667.1:p.Val1794Leufs frameshift NM_001407739.1:c.5379_5386delTGTAGCAC NP_001394668.1:p.Val1794Leufs frameshift NM_001407740.1:c.5379_5386delTGTAGCAC NP_001394669.1:p.Val1794Leufs frameshift NM_001407741.1:c.5379_5386delTGTAGCAC NP_001394670.1:p.Val1794Leufs frameshift NM_001407742.1:c.5379_5386delTGTAGCAC NP_001394671.1:p.Val1794Leufs frameshift NM_001407743.1:c.5379_5386delTGTAGCAC NP_001394672.1:p.Val1794Leufs frameshift NM_001407744.1:c.5379_5386delTGTAGCAC NP_001394673.1:p.Val1794Leufs frameshift NM_001407745.1:c.5379_5386delTGTAGCAC NP_001394674.1:p.Val1794Leufs frameshift NM_001407746.1:c.5379_5386delTGTAGCAC NP_001394675.1:p.Val1794Leufs frameshift NM_001407747.1:c.5379_5386delTGTAGCAC NP_001394676.1:p.Val1794Leufs frameshift NM_001407748.1:c.5379_5386delTGTAGCAC NP_001394677.1:p.Val1794Leufs frameshift NM_001407749.1:c.5379_5386delTGTAGCAC NP_001394678.1:p.Val1794Leufs frameshift NM_001407750.1:c.5379_5386delTGTAGCAC NP_001394679.1:p.Val1794Leufs frameshift NM_001407751.1:c.5379_5386delTGTAGCAC NP_001394680.1:p.Val1794Leufs frameshift NM_001407752.1:c.5379_5386delTGTAGCAC NP_001394681.1:p.Val1794Leufs frameshift NM_001407838.1:c.5376_5383delTGTAGCAC NP_001394767.1:p.Val1793Leufs frameshift NM_001407839.1:c.5376_5383delTGTAGCAC NP_001394768.1:p.Val1793Leufs frameshift NM_001407841.1:c.5376_5383delTGTAGCAC NP_001394770.1:p.Val1793Leufs frameshift NM_001407842.1:c.5376_5383delTGTAGCAC NP_001394771.1:p.Val1793Leufs frameshift NM_001407843.1:c.5376_5383delTGTAGCAC NP_001394772.1:p.Val1793Leufs frameshift NM_001407844.1:c.5376_5383delTGTAGCAC NP_001394773.1:p.Val1793Leufs frameshift NM_001407845.1:c.5376_5383delTGTAGCAC NP_001394774.1:p.Val1793Leufs frameshift NM_001407846.1:c.5376_5383delTGTAGCAC NP_001394775.1:p.Val1793Leufs frameshift NM_001407847.1:c.5376_5383delTGTAGCAC NP_001394776.1:p.Val1793Leufs frameshift NM_001407848.1:c.5376_5383delTGTAGCAC NP_001394777.1:p.Val1793Leufs frameshift NM_001407849.1:c.5376_5383delTGTAGCAC NP_001394778.1:p.Val1793Leufs frameshift NM_001407850.1:c.5376_5383delTGTAGCAC NP_001394779.1:p.Val1793Leufs frameshift NM_001407851.1:c.5376_5383delTGTAGCAC NP_001394780.1:p.Val1793Leufs frameshift NM_001407852.1:c.5376_5383delTGTAGCAC NP_001394781.1:p.Val1793Leufs frameshift NM_001407853.1:c.5376_5383delTGTAGCAC NP_001394782.1:p.Val1793Leufs frameshift NM_001407854.1:c.*37_*44delTGTAGCAC NM_001407858.1:c.*37_*44delTGTAGCAC NM_001407859.1:c.*37_*44delTGTAGCAC NM_001407860.1:c.*37_*44delTGTAGCAC NM_001407861.1:c.*37_*44delTGTAGCAC NM_001407862.1:c.5322_5329delTGTAGCAC NP_001394791.1:p.Val1775Leufs frameshift NM_001407863.1:c.5319_5326delTGTAGCAC NP_001394792.1:p.Val1774Leufs frameshift NM_001407874.1:c.5316_5323delTGTAGCAC NP_001394803.1:p.Val1773Leufs frameshift NM_001407875.1:c.5316_5323delTGTAGCAC NP_001394804.1:p.Val1773Leufs frameshift NM_001407879.1:c.5313_5320delTGTAGCAC NP_001394808.1:p.Val1772Leufs frameshift NM_001407881.1:c.5313_5320delTGTAGCAC NP_001394810.1:p.Val1772Leufs frameshift NM_001407882.1:c.5313_5320delTGTAGCAC NP_001394811.1:p.Val1772Leufs frameshift NM_001407884.1:c.5313_5320delTGTAGCAC NP_001394813.1:p.Val1772Leufs frameshift NM_001407885.1:c.5313_5320delTGTAGCAC NP_001394814.1:p.Val1772Leufs frameshift NM_001407886.1:c.5313_5320delTGTAGCAC NP_001394815.1:p.Val1772Leufs frameshift NM_001407887.1:c.5313_5320delTGTAGCAC NP_001394816.1:p.Val1772Leufs frameshift NM_001407889.1:c.5313_5320delTGTAGCAC NP_001394818.1:p.Val1772Leufs frameshift NM_001407894.1:c.5310_5317delTGTAGCAC NP_001394823.1:p.Val1771Leufs frameshift NM_001407895.1:c.5310_5317delTGTAGCAC NP_001394824.1:p.Val1771Leufs frameshift NM_001407896.1:c.5310_5317delTGTAGCAC NP_001394825.1:p.Val1771Leufs frameshift NM_001407897.1:c.5310_5317delTGTAGCAC NP_001394826.1:p.Val1771Leufs frameshift NM_001407898.1:c.5310_5317delTGTAGCAC NP_001394827.1:p.Val1771Leufs frameshift NM_001407899.1:c.5310_5317delTGTAGCAC NP_001394828.1:p.Val1771Leufs frameshift NM_001407900.1:c.5310_5317delTGTAGCAC NP_001394829.1:p.Val1771Leufs frameshift NM_001407902.1:c.5310_5317delTGTAGCAC NP_001394831.1:p.Val1771Leufs frameshift NM_001407904.1:c.5310_5317delTGTAGCAC NP_001394833.1:p.Val1771Leufs frameshift NM_001407906.1:c.5310_5317delTGTAGCAC NP_001394835.1:p.Val1771Leufs frameshift NM_001407907.1:c.5310_5317delTGTAGCAC NP_001394836.1:p.Val1771Leufs frameshift NM_001407908.1:c.5310_5317delTGTAGCAC NP_001394837.1:p.Val1771Leufs frameshift NM_001407909.1:c.5310_5317delTGTAGCAC NP_001394838.1:p.Val1771Leufs frameshift NM_001407910.1:c.5310_5317delTGTAGCAC NP_001394839.1:p.Val1771Leufs frameshift NM_001407915.1:c.5307_5314delTGTAGCAC NP_001394844.1:p.Val1770Leufs frameshift NM_001407916.1:c.5307_5314delTGTAGCAC NP_001394845.1:p.Val1770Leufs frameshift NM_001407917.1:c.5307_5314delTGTAGCAC NP_001394846.1:p.Val1770Leufs frameshift NM_001407918.1:c.5307_5314delTGTAGCAC NP_001394847.1:p.Val1770Leufs frameshift NM_001407919.1:c.5271_5278delTGTAGCAC NP_001394848.1:p.Val1758Leufs frameshift NM_001407920.1:c.5259_5266delTGTAGCAC NP_001394849.1:p.Val1754Leufs frameshift NM_001407921.1:c.5259_5266delTGTAGCAC NP_001394850.1:p.Val1754Leufs frameshift NM_001407922.1:c.5259_5266delTGTAGCAC NP_001394851.1:p.Val1754Leufs frameshift NM_001407923.1:c.5259_5266delTGTAGCAC NP_001394852.1:p.Val1754Leufs frameshift NM_001407924.1:c.5259_5266delTGTAGCAC NP_001394853.1:p.Val1754Leufs frameshift NM_001407925.1:c.5259_5266delTGTAGCAC NP_001394854.1:p.Val1754Leufs frameshift NM_001407926.1:c.5259_5266delTGTAGCAC NP_001394855.1:p.Val1754Leufs frameshift NM_001407927.1:c.5256_5263delTGTAGCAC NP_001394856.1:p.Val1753Leufs frameshift NM_001407928.1:c.5256_5263delTGTAGCAC NP_001394857.1:p.Val1753Leufs frameshift NM_001407929.1:c.5256_5263delTGTAGCAC NP_001394858.1:p.Val1753Leufs frameshift NM_001407930.1:c.5256_5263delTGTAGCAC NP_001394859.1:p.Val1753Leufs frameshift NM_001407931.1:c.5256_5263delTGTAGCAC NP_001394860.1:p.Val1753Leufs frameshift NM_001407932.1:c.5256_5263delTGTAGCAC NP_001394861.1:p.Val1753Leufs frameshift NM_001407933.1:c.5256_5263delTGTAGCAC NP_001394862.1:p.Val1753Leufs frameshift NM_001407934.1:c.5253_5260delTGTAGCAC NP_001394863.1:p.Val1752Leufs frameshift NM_001407935.1:c.5253_5260delTGTAGCAC NP_001394864.1:p.Val1752Leufs frameshift NM_001407936.1:c.5253_5260delTGTAGCAC NP_001394865.1:p.Val1752Leufs frameshift NM_001407937.1:c.*37_*44delTGTAGCAC NM_001407938.1:c.*37_*44delTGTAGCAC NM_001407939.1:c.*37_*44delTGTAGCAC NM_001407940.1:c.*37_*44delTGTAGCAC NM_001407941.1:c.*37_*44delTGTAGCAC NM_001407942.1:c.*37_*44delTGTAGCAC NM_001407943.1:c.*37_*44delTGTAGCAC NM_001407944.1:c.*37_*44delTGTAGCAC NM_001407945.1:c.*37_*44delTGTAGCAC NM_001407946.1:c.5190_5197delTGTAGCAC NP_001394875.1:p.Val1731Leufs frameshift NM_001407947.1:c.5190_5197delTGTAGCAC NP_001394876.1:p.Val1731Leufs frameshift NM_001407948.1:c.5190_5197delTGTAGCAC NP_001394877.1:p.Val1731Leufs frameshift NM_001407949.1:c.5190_5197delTGTAGCAC NP_001394878.1:p.Val1731Leufs frameshift NM_001407950.1:c.5187_5194delTGTAGCAC NP_001394879.1:p.Val1730Leufs frameshift NM_001407951.1:c.5187_5194delTGTAGCAC NP_001394880.1:p.Val1730Leufs frameshift NM_001407952.1:c.5187_5194delTGTAGCAC NP_001394881.1:p.Val1730Leufs frameshift NM_001407953.1:c.5187_5194delTGTAGCAC NP_001394882.1:p.Val1730Leufs frameshift NM_001407954.1:c.5187_5194delTGTAGCAC NP_001394883.1:p.Val1730Leufs frameshift NM_001407955.1:c.5187_5194delTGTAGCAC NP_001394884.1:p.Val1730Leufs frameshift NM_001407956.1:c.5184_5191delTGTAGCAC NP_001394885.1:p.Val1729Leufs frameshift NM_001407957.1:c.5184_5191delTGTAGCAC NP_001394886.1:p.Val1729Leufs frameshift NM_001407958.1:c.5184_5191delTGTAGCAC NP_001394887.1:p.Val1729Leufs frameshift NM_001407959.1:c.5142_5149delTGTAGCAC NP_001394888.1:p.Val1715Leufs frameshift NM_001407960.1:c.5139_5146delTGTAGCAC NP_001394889.1:p.Val1714Leufs frameshift NM_001407962.1:c.5139_5146delTGTAGCAC NP_001394891.1:p.Val1714Leufs frameshift NM_001407963.1:c.5136_5143delTGTAGCAC NP_001394892.1:p.Val1713Leufs frameshift NM_001407964.1:c.5061_5068delTGTAGCAC NP_001394893.1:p.Val1688Leufs frameshift NM_001407965.1:c.5016_5023delTGTAGCAC NP_001394894.1:p.Val1673Leufs frameshift NM_001407966.1:c.4635_4642delTGTAGCAC NP_001394895.1:p.Val1546Leufs frameshift NM_001407967.1:c.4632_4639delTGTAGCAC NP_001394896.1:p.Val1545Leufs frameshift NM_001407968.1:c.2919_2926delTGTAGCAC NP_001394897.1:p.Val974Leufs frameshift NM_001407969.1:c.2916_2923delTGTAGCAC NP_001394898.1:p.Val973Leufs frameshift NM_001407970.1:c.2280_2287delTGTAGCAC NP_001394899.1:p.Val761Leufs frameshift NM_001407971.1:c.2280_2287delTGTAGCAC NP_001394900.1:p.Val761Leufs frameshift NM_001407972.1:c.2277_2284delTGTAGCAC NP_001394901.1:p.Val760Leufs frameshift NM_001407973.1:c.2214_2221delTGTAGCAC NP_001394902.1:p.Val739Leufs frameshift NM_001407974.1:c.2214_2221delTGTAGCAC NP_001394903.1:p.Val739Leufs frameshift NM_001407975.1:c.2214_2221delTGTAGCAC NP_001394904.1:p.Val739Leufs frameshift NM_001407976.1:c.2214_2221delTGTAGCAC NP_001394905.1:p.Val739Leufs frameshift NM_001407977.1:c.2214_2221delTGTAGCAC NP_001394906.1:p.Val739Leufs frameshift NM_001407978.1:c.2214_2221delTGTAGCAC NP_001394907.1:p.Val739Leufs frameshift NM_001407979.1:c.2211_2218delTGTAGCAC NP_001394908.1:p.Val738Leufs frameshift NM_001407980.1:c.2211_2218delTGTAGCAC NP_001394909.1:p.Val738Leufs frameshift NM_001407981.1:c.2211_2218delTGTAGCAC NP_001394910.1:p.Val738Leufs frameshift NM_001407982.1:c.2211_2218delTGTAGCAC NP_001394911.1:p.Val738Leufs frameshift NM_001407983.1:c.2211_2218delTGTAGCAC NP_001394912.1:p.Val738Leufs frameshift NM_001407984.1:c.2211_2218delTGTAGCAC NP_001394913.1:p.Val738Leufs frameshift NM_001407985.1:c.2211_2218delTGTAGCAC NP_001394914.1:p.Val738Leufs frameshift NM_001407986.1:c.2211_2218delTGTAGCAC NP_001394915.1:p.Val738Leufs frameshift NM_001407990.1:c.2211_2218delTGTAGCAC NP_001394919.1:p.Val738Leufs frameshift NM_001407991.1:c.2211_2218delTGTAGCAC NP_001394920.1:p.Val738Leufs frameshift NM_001407992.1:c.2211_2218delTGTAGCAC NP_001394921.1:p.Val738Leufs frameshift NM_001407993.1:c.2211_2218delTGTAGCAC NP_001394922.1:p.Val738Leufs frameshift NM_001408392.1:c.2208_2215delTGTAGCAC NP_001395321.1:p.Val737Leufs frameshift NM_001408396.1:c.2208_2215delTGTAGCAC NP_001395325.1:p.Val737Leufs frameshift NM_001408397.1:c.2208_2215delTGTAGCAC NP_001395326.1:p.Val737Leufs frameshift NM_001408398.1:c.2208_2215delTGTAGCAC NP_001395327.1:p.Val737Leufs frameshift NM_001408399.1:c.2208_2215delTGTAGCAC NP_001395328.1:p.Val737Leufs frameshift NM_001408400.1:c.2208_2215delTGTAGCAC NP_001395329.1:p.Val737Leufs frameshift NM_001408401.1:c.2208_2215delTGTAGCAC NP_001395330.1:p.Val737Leufs frameshift NM_001408402.1:c.2208_2215delTGTAGCAC NP_001395331.1:p.Val737Leufs frameshift NM_001408403.1:c.2208_2215delTGTAGCAC NP_001395332.1:p.Val737Leufs frameshift NM_001408404.1:c.2208_2215delTGTAGCAC NP_001395333.1:p.Val737Leufs frameshift NM_001408406.1:c.2205_2212delTGTAGCAC NP_001395335.1:p.Val736Leufs frameshift NM_001408407.1:c.2205_2212delTGTAGCAC NP_001395336.1:p.Val736Leufs frameshift NM_001408408.1:c.2205_2212delTGTAGCAC NP_001395337.1:p.Val736Leufs frameshift NM_001408409.1:c.2202_2209delTGTAGCAC NP_001395338.1:p.Val735Leufs frameshift NM_001408410.1:c.2139_2146delTGTAGCAC NP_001395339.1:p.Val714Leufs frameshift NM_001408411.1:c.2136_2143delTGTAGCAC NP_001395340.1:p.Val713Leufs frameshift NM_001408412.1:c.2133_2140delTGTAGCAC NP_001395341.1:p.Val712Leufs frameshift NM_001408413.1:c.2133_2140delTGTAGCAC NP_001395342.1:p.Val712Leufs frameshift NM_001408414.1:c.2133_2140delTGTAGCAC NP_001395343.1:p.Val712Leufs frameshift NM_001408415.1:c.2133_2140delTGTAGCAC NP_001395344.1:p.Val712Leufs frameshift NM_001408416.1:c.2133_2140delTGTAGCAC NP_001395345.1:p.Val712Leufs frameshift NM_001408418.1:c.2097_2104delTGTAGCAC NP_001395347.1:p.Val700Leufs frameshift NM_001408419.1:c.2097_2104delTGTAGCAC NP_001395348.1:p.Val700Leufs frameshift NM_001408420.1:c.2097_2104delTGTAGCAC NP_001395349.1:p.Val700Leufs frameshift NM_001408421.1:c.2094_2101delTGTAGCAC NP_001395350.1:p.Val699Leufs frameshift NM_001408422.1:c.2094_2101delTGTAGCAC NP_001395351.1:p.Val699Leufs frameshift NM_001408423.1:c.2094_2101delTGTAGCAC NP_001395352.1:p.Val699Leufs frameshift NM_001408424.1:c.2094_2101delTGTAGCAC NP_001395353.1:p.Val699Leufs frameshift NM_001408425.1:c.2091_2098delTGTAGCAC NP_001395354.1:p.Val698Leufs frameshift NM_001408426.1:c.2091_2098delTGTAGCAC NP_001395355.1:p.Val698Leufs frameshift NM_001408427.1:c.2091_2098delTGTAGCAC NP_001395356.1:p.Val698Leufs frameshift NM_001408428.1:c.2091_2098delTGTAGCAC NP_001395357.1:p.Val698Leufs frameshift NM_001408429.1:c.2091_2098delTGTAGCAC NP_001395358.1:p.Val698Leufs frameshift NM_001408430.1:c.2091_2098delTGTAGCAC NP_001395359.1:p.Val698Leufs frameshift NM_001408431.1:c.2091_2098delTGTAGCAC NP_001395360.1:p.Val698Leufs frameshift NM_001408432.1:c.2088_2095delTGTAGCAC NP_001395361.1:p.Val697Leufs frameshift NM_001408433.1:c.2088_2095delTGTAGCAC NP_001395362.1:p.Val697Leufs frameshift NM_001408434.1:c.2088_2095delTGTAGCAC NP_001395363.1:p.Val697Leufs frameshift NM_001408435.1:c.2088_2095delTGTAGCAC NP_001395364.1:p.Val697Leufs frameshift NM_001408436.1:c.2088_2095delTGTAGCAC NP_001395365.1:p.Val697Leufs frameshift NM_001408437.1:c.2088_2095delTGTAGCAC NP_001395366.1:p.Val697Leufs frameshift NM_001408438.1:c.2088_2095delTGTAGCAC NP_001395367.1:p.Val697Leufs frameshift NM_001408439.1:c.2088_2095delTGTAGCAC NP_001395368.1:p.Val697Leufs frameshift NM_001408440.1:c.2088_2095delTGTAGCAC NP_001395369.1:p.Val697Leufs frameshift NM_001408441.1:c.2088_2095delTGTAGCAC NP_001395370.1:p.Val697Leufs frameshift NM_001408442.1:c.2088_2095delTGTAGCAC NP_001395371.1:p.Val697Leufs frameshift NM_001408443.1:c.2088_2095delTGTAGCAC NP_001395372.1:p.Val697Leufs frameshift NM_001408444.1:c.2088_2095delTGTAGCAC NP_001395373.1:p.Val697Leufs frameshift NM_001408445.1:c.2085_2092delTGTAGCAC NP_001395374.1:p.Val696Leufs frameshift NM_001408446.1:c.2085_2092delTGTAGCAC NP_001395375.1:p.Val696Leufs frameshift NM_001408447.1:c.2085_2092delTGTAGCAC NP_001395376.1:p.Val696Leufs frameshift NM_001408448.1:c.2085_2092delTGTAGCAC NP_001395377.1:p.Val696Leufs frameshift NM_001408450.1:c.2085_2092delTGTAGCAC NP_001395379.1:p.Val696Leufs frameshift NM_001408451.1:c.2079_2086delTGTAGCAC NP_001395380.1:p.Val694Leufs frameshift NM_001408452.1:c.2073_2080delTGTAGCAC NP_001395381.1:p.Val692Leufs frameshift NM_001408453.1:c.2073_2080delTGTAGCAC NP_001395382.1:p.Val692Leufs frameshift NM_001408454.1:c.2073_2080delTGTAGCAC NP_001395383.1:p.Val692Leufs frameshift NM_001408455.1:c.2073_2080delTGTAGCAC NP_001395384.1:p.Val692Leufs frameshift NM_001408456.1:c.2073_2080delTGTAGCAC NP_001395385.1:p.Val692Leufs frameshift NM_001408457.1:c.2073_2080delTGTAGCAC NP_001395386.1:p.Val692Leufs frameshift NM_001408458.1:c.2070_2077delTGTAGCAC NP_001395387.1:p.Val691Leufs frameshift NM_001408459.1:c.2070_2077delTGTAGCAC NP_001395388.1:p.Val691Leufs frameshift NM_001408460.1:c.2070_2077delTGTAGCAC NP_001395389.1:p.Val691Leufs frameshift NM_001408461.1:c.2070_2077delTGTAGCAC NP_001395390.1:p.Val691Leufs frameshift NM_001408462.1:c.2070_2077delTGTAGCAC NP_001395391.1:p.Val691Leufs frameshift NM_001408463.1:c.2070_2077delTGTAGCAC NP_001395392.1:p.Val691Leufs frameshift NM_001408464.1:c.2070_2077delTGTAGCAC NP_001395393.1:p.Val691Leufs frameshift NM_001408465.1:c.2070_2077delTGTAGCAC NP_001395394.1:p.Val691Leufs frameshift NM_001408466.1:c.2070_2077delTGTAGCAC NP_001395395.1:p.Val691Leufs frameshift NM_001408467.1:c.2070_2077delTGTAGCAC NP_001395396.1:p.Val691Leufs frameshift NM_001408468.1:c.2067_2074delTGTAGCAC NP_001395397.1:p.Val690Leufs frameshift NM_001408469.1:c.2067_2074delTGTAGCAC NP_001395398.1:p.Val690Leufs frameshift NM_001408470.1:c.2067_2074delTGTAGCAC NP_001395399.1:p.Val690Leufs frameshift NM_001408472.1:c.*37_*44delTGTAGCAC NM_001408473.1:c.*37_*44delTGTAGCAC NM_001408474.1:c.2013_2020delTGTAGCAC NP_001395403.1:p.Val672Leufs frameshift NM_001408475.1:c.2010_2017delTGTAGCAC NP_001395404.1:p.Val671Leufs frameshift NM_001408476.1:c.2010_2017delTGTAGCAC NP_001395405.1:p.Val671Leufs frameshift NM_001408478.1:c.2004_2011delTGTAGCAC NP_001395407.1:p.Val669Leufs frameshift NM_001408479.1:c.2004_2011delTGTAGCAC NP_001395408.1:p.Val669Leufs frameshift NM_001408480.1:c.2004_2011delTGTAGCAC NP_001395409.1:p.Val669Leufs frameshift NM_001408481.1:c.2001_2008delTGTAGCAC NP_001395410.1:p.Val668Leufs frameshift NM_001408482.1:c.2001_2008delTGTAGCAC NP_001395411.1:p.Val668Leufs frameshift NM_001408483.1:c.2001_2008delTGTAGCAC NP_001395412.1:p.Val668Leufs frameshift NM_001408484.1:c.2001_2008delTGTAGCAC NP_001395413.1:p.Val668Leufs frameshift NM_001408485.1:c.2001_2008delTGTAGCAC NP_001395414.1:p.Val668Leufs frameshift NM_001408489.1:c.2001_2008delTGTAGCAC NP_001395418.1:p.Val668Leufs frameshift NM_001408490.1:c.2001_2008delTGTAGCAC NP_001395419.1:p.Val668Leufs frameshift NM_001408491.1:c.2001_2008delTGTAGCAC NP_001395420.1:p.Val668Leufs frameshift NM_001408492.1:c.1998_2005delTGTAGCAC NP_001395421.1:p.Val667Leufs frameshift NM_001408493.1:c.1998_2005delTGTAGCAC NP_001395422.1:p.Val667Leufs frameshift NM_001408494.1:c.1974_1981delTGTAGCAC NP_001395423.1:p.Val659Leufs frameshift NM_001408495.1:c.1968_1975delTGTAGCAC NP_001395424.1:p.Val657Leufs frameshift NM_001408496.1:c.1950_1957delTGTAGCAC NP_001395425.1:p.Val651Leufs frameshift NM_001408497.1:c.1950_1957delTGTAGCAC NP_001395426.1:p.Val651Leufs frameshift NM_001408498.1:c.1950_1957delTGTAGCAC NP_001395427.1:p.Val651Leufs frameshift NM_001408499.1:c.1950_1957delTGTAGCAC NP_001395428.1:p.Val651Leufs frameshift NM_001408500.1:c.1950_1957delTGTAGCAC NP_001395429.1:p.Val651Leufs frameshift NM_001408501.1:c.1950_1957delTGTAGCAC NP_001395430.1:p.Val651Leufs frameshift NM_001408502.1:c.1947_1954delTGTAGCAC NP_001395431.1:p.Val650Leufs frameshift NM_001408503.1:c.1947_1954delTGTAGCAC NP_001395432.1:p.Val650Leufs frameshift NM_001408504.1:c.1947_1954delTGTAGCAC NP_001395433.1:p.Val650Leufs frameshift NM_001408505.1:c.1944_1951delTGTAGCAC NP_001395434.1:p.Val649Leufs frameshift NM_001408506.1:c.1887_1894delTGTAGCAC NP_001395435.1:p.Val630Leufs frameshift NM_001408507.1:c.1884_1891delTGTAGCAC NP_001395436.1:p.Val629Leufs frameshift NM_001408508.1:c.1875_1882delTGTAGCAC NP_001395437.1:p.Val626Leufs frameshift NM_001408509.1:c.1872_1879delTGTAGCAC NP_001395438.1:p.Val625Leufs frameshift NM_001408510.1:c.1833_1840delTGTAGCAC NP_001395439.1:p.Val612Leufs frameshift NM_001408511.1:c.1830_1837delTGTAGCAC NP_001395440.1:p.Val611Leufs frameshift NM_001408512.1:c.1710_1717delTGTAGCAC NP_001395441.1:p.Val571Leufs frameshift NM_001408513.1:c.1683_1690delTGTAGCAC NP_001395442.1:p.Val562Leufs frameshift NM_001408514.1:c.1287_1294delTGTAGCAC NP_001395443.1:p.Val430Leufs frameshift NM_007294.3:c.5524_5531delGTAGCACT frameshift NM_007297.4:c.5383_5390del NP_009228.2:p.Val1795fs frameshift NM_007298.4:c.2211_2218delTGTAGCAC NP_009229.2:p.Val738Leufs frameshift NM_007299.4:c.*38_*45del 3 prime UTR NM_007300.4:c.5587_5594del NP_009231.2:p.Val1863fs frameshift NM_007304.2:c.2211_2218delTGTAGCAC NP_009235.2:p.Val738Leufs frameshift NR_027676.2:n.5701_5708del non-coding transcript variant NC_000017.11:g.43045740_43045747del NC_000017.10:g.41197757_41197764del NG_005905.2:g.172238_172245del LRG_292:g.172238_172245del LRG_292t1:c.5523_5530del LRG_292p1:p.Val1842Leufs - Protein change
- V1842fs, V1795fs, V738fs, V1863fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045738:AGTGCTACA:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12879 | 14664 |
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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (2) |
reviewed by expert panel
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Dec 15, 2017 | RCV000239252.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 27, 2022 | RCV002518503.2 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Dec 15, 2017)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Study: ENIGMA
Accession: SCV000783408.1 First in ClinVar: Aug 01, 2016 Last updated: Aug 01, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Uncertain significance
(Mar 11, 2016)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296439.2
First in ClinVar: Aug 01, 2016 Last updated: Jan 01, 2022 |
Indication for testing: Hereditary breast and ovarian cancer syndrome (HBOC)
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Pathogenic
(Apr 27, 2022)
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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
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Invitae
Accession: SCV003341839.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 20, 2024 |
Comment:
This sequence change results in a frameshift in the BRCA1 gene (p.Val1842Leufs*35). While this is not anticipated to result in nonsense mediated decay, it is … (more)
This sequence change results in a frameshift in the BRCA1 gene (p.Val1842Leufs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acid(s) of the BRCA1 protein and extend the protein by 12 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 252389). This variant disrupts a region of the BRCA1 protein in which other variant(s) (p.Tyr1853*) have been determined to be pathogenic (PMID: 7894493, 10811118, 11739404, 20104584, 21922593, 24504028). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. (less)
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | Cunningham JM | Scientific reports | 2014 | PMID: 24504028 |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. | Millot GA | Human mutation | 2011 | PMID: 21922593 |
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-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations. | Ye Q | The Journal of cell biology | 2001 | PMID: 11739404 |
Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. | Hayes F | Cancer research | 2000 | PMID: 10811118 |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. | Friedman LS | Nature genetics | 1994 | PMID: 7894493 |
Text-mined citations for rs879255287 ...
HelpRecord last updated Mar 30, 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.