Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter)
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
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NM_007294.4(BRCA1):c.5209A>T (p.Arg1737Ter)
Variation ID: 55458 Accession: VCV000055458.6
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43057120 (GRCh38) [ NCBI UCSC ] 17: 41209137 (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 Apr 1, 2014 Dec 11, 2022 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5209A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1737Ter nonsense NM_001407571.1:c.4996A>T NP_001394500.1:p.Arg1666Ter nonsense NM_001407581.1:c.5275A>T NP_001394510.1:p.Arg1759Ter nonsense NM_001407582.1:c.5275A>T NP_001394511.1:p.Arg1759Ter nonsense NM_001407583.1:c.5272A>T NP_001394512.1:p.Arg1758Ter nonsense NM_001407585.1:c.5272A>T NP_001394514.1:p.Arg1758Ter nonsense NM_001407587.1:c.5272A>T NP_001394516.1:p.Arg1758Ter nonsense NM_001407590.1:c.5269A>T NP_001394519.1:p.Arg1757Ter nonsense NM_001407591.1:c.5269A>T NP_001394520.1:p.Arg1757Ter nonsense NM_001407593.1:c.5209A>T NP_001394522.1:p.Arg1737Ter nonsense NM_001407594.1:c.5209A>T NP_001394523.1:p.Arg1737Ter nonsense NM_001407596.1:c.5209A>T NP_001394525.1:p.Arg1737Ter nonsense NM_001407597.1:c.5209A>T NP_001394526.1:p.Arg1737Ter nonsense NM_001407598.1:c.5209A>T NP_001394527.1:p.Arg1737Ter nonsense NM_001407602.1:c.5209A>T NP_001394531.1:p.Arg1737Ter nonsense NM_001407603.1:c.5209A>T NP_001394532.1:p.Arg1737Ter nonsense NM_001407605.1:c.5209A>T NP_001394534.1:p.Arg1737Ter nonsense NM_001407610.1:c.5206A>T NP_001394539.1:p.Arg1736Ter nonsense NM_001407611.1:c.5206A>T NP_001394540.1:p.Arg1736Ter nonsense NM_001407612.1:c.5206A>T NP_001394541.1:p.Arg1736Ter nonsense NM_001407613.1:c.5206A>T NP_001394542.1:p.Arg1736Ter nonsense NM_001407614.1:c.5206A>T NP_001394543.1:p.Arg1736Ter nonsense NM_001407615.1:c.5206A>T NP_001394544.1:p.Arg1736Ter nonsense NM_001407616.1:c.5206A>T NP_001394545.1:p.Arg1736Ter nonsense NM_001407617.1:c.5206A>T NP_001394546.1:p.Arg1736Ter nonsense NM_001407618.1:c.5206A>T NP_001394547.1:p.Arg1736Ter nonsense NM_001407619.1:c.5206A>T NP_001394548.1:p.Arg1736Ter nonsense NM_001407620.1:c.5206A>T NP_001394549.1:p.Arg1736Ter nonsense NM_001407621.1:c.5206A>T NP_001394550.1:p.Arg1736Ter nonsense NM_001407622.1:c.5206A>T NP_001394551.1:p.Arg1736Ter nonsense NM_001407623.1:c.5206A>T NP_001394552.1:p.Arg1736Ter nonsense NM_001407624.1:c.5206A>T NP_001394553.1:p.Arg1736Ter nonsense NM_001407625.1:c.5206A>T NP_001394554.1:p.Arg1736Ter nonsense NM_001407626.1:c.5206A>T NP_001394555.1:p.Arg1736Ter nonsense NM_001407627.1:c.5203A>T NP_001394556.1:p.Arg1735Ter nonsense NM_001407628.1:c.5203A>T NP_001394557.1:p.Arg1735Ter nonsense NM_001407629.1:c.5203A>T NP_001394558.1:p.Arg1735Ter nonsense NM_001407630.1:c.5203A>T NP_001394559.1:p.Arg1735Ter nonsense NM_001407631.1:c.5203A>T NP_001394560.1:p.Arg1735Ter nonsense NM_001407632.1:c.5203A>T NP_001394561.1:p.Arg1735Ter nonsense NM_001407633.1:c.5203A>T NP_001394562.1:p.Arg1735Ter nonsense NM_001407634.1:c.5203A>T NP_001394563.1:p.Arg1735Ter nonsense NM_001407635.1:c.5203A>T NP_001394564.1:p.Arg1735Ter nonsense NM_001407636.1:c.5203A>T NP_001394565.1:p.Arg1735Ter nonsense NM_001407637.1:c.5203A>T NP_001394566.1:p.Arg1735Ter nonsense NM_001407638.1:c.5203A>T NP_001394567.1:p.Arg1735Ter nonsense NM_001407639.1:c.5203A>T NP_001394568.1:p.Arg1735Ter nonsense NM_001407640.1:c.5203A>T NP_001394569.1:p.Arg1735Ter nonsense NM_001407641.1:c.5203A>T NP_001394570.1:p.Arg1735Ter nonsense NM_001407642.1:c.5203A>T NP_001394571.1:p.Arg1735Ter nonsense NM_001407644.1:c.5200A>T NP_001394573.1:p.Arg1734Ter nonsense NM_001407645.1:c.5200A>T NP_001394574.1:p.Arg1734Ter nonsense NM_001407646.1:c.5197A>T NP_001394575.1:p.Arg1733Ter nonsense NM_001407647.1:c.5194A>T NP_001394576.1:p.Arg1732Ter nonsense NM_001407648.1:c.5152A>T NP_001394577.1:p.Arg1718Ter nonsense NM_001407649.1:c.5149A>T NP_001394578.1:p.Arg1717Ter nonsense NM_001407652.1:c.5131A>T NP_001394581.1:p.Arg1711Ter nonsense NM_001407653.1:c.5131A>T NP_001394582.1:p.Arg1711Ter nonsense NM_001407654.1:c.5131A>T NP_001394583.1:p.Arg1711Ter nonsense NM_001407655.1:c.5131A>T NP_001394584.1:p.Arg1711Ter nonsense NM_001407656.1:c.5128A>T NP_001394585.1:p.Arg1710Ter nonsense NM_001407657.1:c.5128A>T NP_001394586.1:p.Arg1710Ter nonsense NM_001407658.1:c.5128A>T NP_001394587.1:p.Arg1710Ter nonsense NM_001407659.1:c.5125A>T NP_001394588.1:p.Arg1709Ter nonsense NM_001407660.1:c.5125A>T NP_001394589.1:p.Arg1709Ter nonsense NM_001407661.1:c.5125A>T NP_001394590.1:p.Arg1709Ter nonsense NM_001407662.1:c.5125A>T NP_001394591.1:p.Arg1709Ter nonsense NM_001407663.1:c.5125A>T NP_001394592.1:p.Arg1709Ter nonsense NM_001407664.1:c.5086A>T NP_001394593.1:p.Arg1696Ter nonsense NM_001407665.1:c.5086A>T NP_001394594.1:p.Arg1696Ter nonsense NM_001407666.1:c.5086A>T NP_001394595.1:p.Arg1696Ter nonsense NM_001407667.1:c.5086A>T NP_001394596.1:p.Arg1696Ter nonsense NM_001407668.1:c.5086A>T NP_001394597.1:p.Arg1696Ter nonsense NM_001407669.1:c.5086A>T NP_001394598.1:p.Arg1696Ter nonsense NM_001407670.1:c.5083A>T NP_001394599.1:p.Arg1695Ter nonsense NM_001407671.1:c.5083A>T NP_001394600.1:p.Arg1695Ter nonsense NM_001407672.1:c.5083A>T NP_001394601.1:p.Arg1695Ter nonsense NM_001407673.1:c.5083A>T NP_001394602.1:p.Arg1695Ter nonsense NM_001407674.1:c.5083A>T NP_001394603.1:p.Arg1695Ter nonsense NM_001407675.1:c.5083A>T NP_001394604.1:p.Arg1695Ter nonsense NM_001407676.1:c.5083A>T NP_001394605.1:p.Arg1695Ter nonsense NM_001407677.1:c.5083A>T NP_001394606.1:p.Arg1695Ter nonsense NM_001407678.1:c.5083A>T NP_001394607.1:p.Arg1695Ter nonsense NM_001407679.1:c.5083A>T NP_001394608.1:p.Arg1695Ter nonsense NM_001407680.1:c.5083A>T NP_001394609.1:p.Arg1695Ter nonsense NM_001407681.1:c.5080A>T NP_001394610.1:p.Arg1694Ter nonsense NM_001407682.1:c.5080A>T NP_001394611.1:p.Arg1694Ter nonsense NM_001407683.1:c.5080A>T NP_001394612.1:p.Arg1694Ter nonsense NM_001407684.1:c.5209A>T NP_001394613.1:p.Arg1737Ter nonsense NM_001407685.1:c.5080A>T NP_001394614.1:p.Arg1694Ter nonsense NM_001407686.1:c.5080A>T NP_001394615.1:p.Arg1694Ter nonsense NM_001407687.1:c.5080A>T NP_001394616.1:p.Arg1694Ter nonsense NM_001407688.1:c.5080A>T NP_001394617.1:p.Arg1694Ter nonsense NM_001407689.1:c.5080A>T NP_001394618.1:p.Arg1694Ter nonsense NM_001407690.1:c.5077A>T NP_001394619.1:p.Arg1693Ter nonsense NM_001407691.1:c.5077A>T NP_001394620.1:p.Arg1693Ter nonsense NM_001407692.1:c.5068A>T NP_001394621.1:p.Arg1690Ter nonsense NM_001407694.1:c.5068A>T NP_001394623.1:p.Arg1690Ter nonsense NM_001407695.1:c.5068A>T NP_001394624.1:p.Arg1690Ter nonsense NM_001407696.1:c.5068A>T NP_001394625.1:p.Arg1690Ter nonsense NM_001407697.1:c.5068A>T NP_001394626.1:p.Arg1690Ter nonsense NM_001407698.1:c.5068A>T NP_001394627.1:p.Arg1690Ter nonsense NM_001407724.1:c.5068A>T NP_001394653.1:p.Arg1690Ter nonsense NM_001407725.1:c.5068A>T NP_001394654.1:p.Arg1690Ter nonsense NM_001407726.1:c.5068A>T NP_001394655.1:p.Arg1690Ter nonsense NM_001407727.1:c.5068A>T NP_001394656.1:p.Arg1690Ter nonsense NM_001407728.1:c.5068A>T NP_001394657.1:p.Arg1690Ter nonsense NM_001407729.1:c.5068A>T NP_001394658.1:p.Arg1690Ter nonsense NM_001407730.1:c.5068A>T NP_001394659.1:p.Arg1690Ter nonsense NM_001407731.1:c.5068A>T NP_001394660.1:p.Arg1690Ter nonsense NM_001407732.1:c.5065A>T NP_001394661.1:p.Arg1689Ter nonsense NM_001407733.1:c.5065A>T NP_001394662.1:p.Arg1689Ter nonsense NM_001407734.1:c.5065A>T NP_001394663.1:p.Arg1689Ter nonsense NM_001407735.1:c.5065A>T NP_001394664.1:p.Arg1689Ter nonsense NM_001407736.1:c.5065A>T NP_001394665.1:p.Arg1689Ter nonsense NM_001407737.1:c.5065A>T NP_001394666.1:p.Arg1689Ter nonsense NM_001407738.1:c.5065A>T NP_001394667.1:p.Arg1689Ter nonsense NM_001407739.1:c.5065A>T NP_001394668.1:p.Arg1689Ter nonsense NM_001407740.1:c.5065A>T NP_001394669.1:p.Arg1689Ter nonsense NM_001407741.1:c.5065A>T NP_001394670.1:p.Arg1689Ter nonsense NM_001407742.1:c.5065A>T NP_001394671.1:p.Arg1689Ter nonsense NM_001407743.1:c.5065A>T NP_001394672.1:p.Arg1689Ter nonsense NM_001407744.1:c.5065A>T NP_001394673.1:p.Arg1689Ter nonsense NM_001407745.1:c.5065A>T NP_001394674.1:p.Arg1689Ter nonsense NM_001407746.1:c.5065A>T NP_001394675.1:p.Arg1689Ter nonsense NM_001407747.1:c.5065A>T NP_001394676.1:p.Arg1689Ter nonsense NM_001407748.1:c.5065A>T NP_001394677.1:p.Arg1689Ter nonsense NM_001407749.1:c.5065A>T NP_001394678.1:p.Arg1689Ter nonsense NM_001407750.1:c.5065A>T NP_001394679.1:p.Arg1689Ter nonsense NM_001407751.1:c.5065A>T NP_001394680.1:p.Arg1689Ter nonsense NM_001407752.1:c.5065A>T NP_001394681.1:p.Arg1689Ter nonsense NM_001407838.1:c.5062A>T NP_001394767.1:p.Arg1688Ter nonsense NM_001407839.1:c.5062A>T NP_001394768.1:p.Arg1688Ter nonsense NM_001407841.1:c.5062A>T NP_001394770.1:p.Arg1688Ter nonsense NM_001407842.1:c.5062A>T NP_001394771.1:p.Arg1688Ter nonsense NM_001407843.1:c.5062A>T NP_001394772.1:p.Arg1688Ter nonsense NM_001407844.1:c.5062A>T NP_001394773.1:p.Arg1688Ter nonsense NM_001407845.1:c.5062A>T NP_001394774.1:p.Arg1688Ter nonsense NM_001407846.1:c.5062A>T NP_001394775.1:p.Arg1688Ter nonsense NM_001407847.1:c.5062A>T NP_001394776.1:p.Arg1688Ter nonsense NM_001407848.1:c.5062A>T NP_001394777.1:p.Arg1688Ter nonsense NM_001407849.1:c.5062A>T NP_001394778.1:p.Arg1688Ter nonsense NM_001407850.1:c.5062A>T NP_001394779.1:p.Arg1688Ter nonsense NM_001407851.1:c.5062A>T NP_001394780.1:p.Arg1688Ter nonsense NM_001407852.1:c.5062A>T NP_001394781.1:p.Arg1688Ter nonsense NM_001407853.1:c.5062A>T NP_001394782.1:p.Arg1688Ter nonsense NM_001407854.1:c.5209A>T NP_001394783.1:p.Arg1737Ter nonsense NM_001407858.1:c.5206A>T NP_001394787.1:p.Arg1736Ter nonsense NM_001407859.1:c.5206A>T NP_001394788.1:p.Arg1736Ter nonsense NM_001407860.1:c.5206A>T NP_001394789.1:p.Arg1736Ter nonsense NM_001407861.1:c.5203A>T NP_001394790.1:p.Arg1735Ter nonsense NM_001407862.1:c.5008A>T NP_001394791.1:p.Arg1670Ter nonsense NM_001407863.1:c.5005A>T NP_001394792.1:p.Arg1669Ter nonsense NM_001407874.1:c.5002A>T NP_001394803.1:p.Arg1668Ter nonsense NM_001407875.1:c.5002A>T NP_001394804.1:p.Arg1668Ter nonsense NM_001407879.1:c.4999A>T NP_001394808.1:p.Arg1667Ter nonsense NM_001407881.1:c.4999A>T NP_001394810.1:p.Arg1667Ter nonsense NM_001407882.1:c.4999A>T NP_001394811.1:p.Arg1667Ter nonsense NM_001407884.1:c.4999A>T NP_001394813.1:p.Arg1667Ter nonsense NM_001407885.1:c.4999A>T NP_001394814.1:p.Arg1667Ter nonsense NM_001407886.1:c.4999A>T NP_001394815.1:p.Arg1667Ter nonsense NM_001407887.1:c.4999A>T NP_001394816.1:p.Arg1667Ter nonsense NM_001407889.1:c.4999A>T NP_001394818.1:p.Arg1667Ter nonsense NM_001407894.1:c.4996A>T NP_001394823.1:p.Arg1666Ter nonsense NM_001407895.1:c.4996A>T NP_001394824.1:p.Arg1666Ter nonsense NM_001407896.1:c.4996A>T NP_001394825.1:p.Arg1666Ter nonsense NM_001407897.1:c.4996A>T NP_001394826.1:p.Arg1666Ter nonsense NM_001407898.1:c.4996A>T NP_001394827.1:p.Arg1666Ter nonsense NM_001407899.1:c.4996A>T NP_001394828.1:p.Arg1666Ter nonsense NM_001407900.1:c.4996A>T NP_001394829.1:p.Arg1666Ter nonsense NM_001407902.1:c.4996A>T NP_001394831.1:p.Arg1666Ter nonsense NM_001407904.1:c.4996A>T NP_001394833.1:p.Arg1666Ter nonsense NM_001407906.1:c.4996A>T NP_001394835.1:p.Arg1666Ter nonsense NM_001407907.1:c.4996A>T NP_001394836.1:p.Arg1666Ter nonsense NM_001407908.1:c.4996A>T NP_001394837.1:p.Arg1666Ter nonsense NM_001407909.1:c.4996A>T NP_001394838.1:p.Arg1666Ter nonsense NM_001407910.1:c.4996A>T NP_001394839.1:p.Arg1666Ter nonsense NM_001407915.1:c.4993A>T NP_001394844.1:p.Arg1665Ter nonsense NM_001407916.1:c.4993A>T NP_001394845.1:p.Arg1665Ter nonsense NM_001407917.1:c.4993A>T NP_001394846.1:p.Arg1665Ter nonsense NM_001407918.1:c.4993A>T NP_001394847.1:p.Arg1665Ter nonsense NM_001407919.1:c.5086A>T NP_001394848.1:p.Arg1696Ter nonsense NM_001407920.1:c.4945A>T NP_001394849.1:p.Arg1649Ter nonsense NM_001407921.1:c.4945A>T NP_001394850.1:p.Arg1649Ter nonsense NM_001407922.1:c.4945A>T NP_001394851.1:p.Arg1649Ter nonsense NM_001407923.1:c.4945A>T NP_001394852.1:p.Arg1649Ter nonsense NM_001407924.1:c.4945A>T NP_001394853.1:p.Arg1649Ter nonsense NM_001407925.1:c.4945A>T NP_001394854.1:p.Arg1649Ter nonsense NM_001407926.1:c.4945A>T NP_001394855.1:p.Arg1649Ter nonsense NM_001407927.1:c.4942A>T NP_001394856.1:p.Arg1648Ter nonsense NM_001407928.1:c.4942A>T NP_001394857.1:p.Arg1648Ter nonsense NM_001407929.1:c.4942A>T NP_001394858.1:p.Arg1648Ter nonsense NM_001407930.1:c.4942A>T NP_001394859.1:p.Arg1648Ter nonsense NM_001407931.1:c.4942A>T NP_001394860.1:p.Arg1648Ter nonsense NM_001407932.1:c.4942A>T NP_001394861.1:p.Arg1648Ter nonsense NM_001407933.1:c.4942A>T NP_001394862.1:p.Arg1648Ter nonsense NM_001407934.1:c.4939A>T NP_001394863.1:p.Arg1647Ter nonsense NM_001407935.1:c.4939A>T NP_001394864.1:p.Arg1647Ter nonsense NM_001407936.1:c.4939A>T NP_001394865.1:p.Arg1647Ter nonsense NM_001407937.1:c.5086A>T NP_001394866.1:p.Arg1696Ter nonsense NM_001407938.1:c.5086A>T NP_001394867.1:p.Arg1696Ter nonsense NM_001407939.1:c.5083A>T NP_001394868.1:p.Arg1695Ter nonsense NM_001407940.1:c.5083A>T NP_001394869.1:p.Arg1695Ter nonsense NM_001407941.1:c.5080A>T NP_001394870.1:p.Arg1694Ter nonsense NM_001407942.1:c.5068A>T NP_001394871.1:p.Arg1690Ter nonsense NM_001407943.1:c.5065A>T NP_001394872.1:p.Arg1689Ter nonsense NM_001407944.1:c.5065A>T NP_001394873.1:p.Arg1689Ter nonsense NM_001407945.1:c.5065A>T NP_001394874.1:p.Arg1689Ter nonsense NM_001407946.1:c.4876A>T NP_001394875.1:p.Arg1626Ter nonsense NM_001407947.1:c.4876A>T NP_001394876.1:p.Arg1626Ter nonsense NM_001407948.1:c.4876A>T NP_001394877.1:p.Arg1626Ter nonsense NM_001407949.1:c.4876A>T NP_001394878.1:p.Arg1626Ter nonsense NM_001407950.1:c.4873A>T NP_001394879.1:p.Arg1625Ter nonsense NM_001407951.1:c.4873A>T NP_001394880.1:p.Arg1625Ter nonsense NM_001407952.1:c.4873A>T NP_001394881.1:p.Arg1625Ter nonsense NM_001407953.1:c.4873A>T NP_001394882.1:p.Arg1625Ter nonsense NM_001407954.1:c.4873A>T NP_001394883.1:p.Arg1625Ter nonsense NM_001407955.1:c.4873A>T NP_001394884.1:p.Arg1625Ter nonsense NM_001407956.1:c.4870A>T NP_001394885.1:p.Arg1624Ter nonsense NM_001407957.1:c.4870A>T NP_001394886.1:p.Arg1624Ter nonsense NM_001407958.1:c.4870A>T NP_001394887.1:p.Arg1624Ter nonsense NM_001407959.1:c.4828A>T NP_001394888.1:p.Arg1610Ter nonsense NM_001407960.1:c.4825A>T NP_001394889.1:p.Arg1609Ter nonsense NM_001407962.1:c.4825A>T NP_001394891.1:p.Arg1609Ter nonsense NM_001407963.1:c.4822A>T NP_001394892.1:p.Arg1608Ter nonsense NM_001407964.1:c.4747A>T NP_001394893.1:p.Arg1583Ter nonsense NM_001407965.1:c.4702A>T NP_001394894.1:p.Arg1568Ter nonsense NM_001407966.1:c.4321A>T NP_001394895.1:p.Arg1441Ter nonsense NM_001407967.1:c.4318A>T NP_001394896.1:p.Arg1440Ter nonsense NM_001407968.1:c.2605A>T NP_001394897.1:p.Arg869Ter nonsense NM_001407969.1:c.2602A>T NP_001394898.1:p.Arg868Ter nonsense NM_001407970.1:c.1966A>T NP_001394899.1:p.Arg656Ter nonsense NM_001407971.1:c.1966A>T NP_001394900.1:p.Arg656Ter nonsense NM_001407972.1:c.1963A>T NP_001394901.1:p.Arg655Ter nonsense NM_001407973.1:c.1900A>T NP_001394902.1:p.Arg634Ter nonsense NM_001407974.1:c.1900A>T NP_001394903.1:p.Arg634Ter nonsense NM_001407975.1:c.1900A>T NP_001394904.1:p.Arg634Ter nonsense NM_001407976.1:c.1900A>T NP_001394905.1:p.Arg634Ter nonsense NM_001407977.1:c.1900A>T NP_001394906.1:p.Arg634Ter nonsense NM_001407978.1:c.1900A>T NP_001394907.1:p.Arg634Ter nonsense NM_001407979.1:c.1897A>T NP_001394908.1:p.Arg633Ter nonsense NM_001407980.1:c.1897A>T NP_001394909.1:p.Arg633Ter nonsense NM_001407981.1:c.1897A>T NP_001394910.1:p.Arg633Ter nonsense NM_001407982.1:c.1897A>T NP_001394911.1:p.Arg633Ter nonsense NM_001407983.1:c.1897A>T NP_001394912.1:p.Arg633Ter nonsense NM_001407984.1:c.1897A>T NP_001394913.1:p.Arg633Ter nonsense NM_001407985.1:c.1897A>T NP_001394914.1:p.Arg633Ter nonsense NM_001407986.1:c.1897A>T NP_001394915.1:p.Arg633Ter nonsense NM_001407990.1:c.1897A>T NP_001394919.1:p.Arg633Ter nonsense NM_001407991.1:c.1897A>T NP_001394920.1:p.Arg633Ter nonsense NM_001407992.1:c.1897A>T NP_001394921.1:p.Arg633Ter nonsense NM_001407993.1:c.1897A>T NP_001394922.1:p.Arg633Ter nonsense NM_001408392.1:c.1894A>T NP_001395321.1:p.Arg632Ter nonsense NM_001408396.1:c.1894A>T NP_001395325.1:p.Arg632Ter nonsense NM_001408397.1:c.1894A>T NP_001395326.1:p.Arg632Ter nonsense NM_001408398.1:c.1894A>T NP_001395327.1:p.Arg632Ter nonsense NM_001408399.1:c.1894A>T NP_001395328.1:p.Arg632Ter nonsense NM_001408400.1:c.1894A>T NP_001395329.1:p.Arg632Ter nonsense NM_001408401.1:c.1894A>T NP_001395330.1:p.Arg632Ter nonsense NM_001408402.1:c.1894A>T NP_001395331.1:p.Arg632Ter nonsense NM_001408403.1:c.1894A>T NP_001395332.1:p.Arg632Ter nonsense NM_001408404.1:c.1894A>T NP_001395333.1:p.Arg632Ter nonsense NM_001408406.1:c.1891A>T NP_001395335.1:p.Arg631Ter nonsense NM_001408407.1:c.1891A>T NP_001395336.1:p.Arg631Ter nonsense NM_001408408.1:c.1891A>T NP_001395337.1:p.Arg631Ter nonsense NM_001408409.1:c.1888A>T NP_001395338.1:p.Arg630Ter nonsense NM_001408410.1:c.1825A>T NP_001395339.1:p.Arg609Ter nonsense NM_001408411.1:c.1822A>T NP_001395340.1:p.Arg608Ter nonsense NM_001408412.1:c.1819A>T NP_001395341.1:p.Arg607Ter nonsense NM_001408413.1:c.1819A>T NP_001395342.1:p.Arg607Ter nonsense NM_001408414.1:c.1819A>T NP_001395343.1:p.Arg607Ter nonsense NM_001408415.1:c.1819A>T NP_001395344.1:p.Arg607Ter nonsense NM_001408416.1:c.1819A>T NP_001395345.1:p.Arg607Ter nonsense NM_001408418.1:c.1783A>T NP_001395347.1:p.Arg595Ter nonsense NM_001408419.1:c.1783A>T NP_001395348.1:p.Arg595Ter nonsense NM_001408420.1:c.1783A>T NP_001395349.1:p.Arg595Ter nonsense NM_001408421.1:c.1780A>T NP_001395350.1:p.Arg594Ter nonsense NM_001408422.1:c.1780A>T NP_001395351.1:p.Arg594Ter nonsense NM_001408423.1:c.1780A>T NP_001395352.1:p.Arg594Ter nonsense NM_001408424.1:c.1780A>T NP_001395353.1:p.Arg594Ter nonsense NM_001408425.1:c.1777A>T NP_001395354.1:p.Arg593Ter nonsense NM_001408426.1:c.1777A>T NP_001395355.1:p.Arg593Ter nonsense NM_001408427.1:c.1777A>T NP_001395356.1:p.Arg593Ter nonsense NM_001408428.1:c.1777A>T NP_001395357.1:p.Arg593Ter nonsense NM_001408429.1:c.1777A>T NP_001395358.1:p.Arg593Ter nonsense NM_001408430.1:c.1777A>T NP_001395359.1:p.Arg593Ter nonsense NM_001408431.1:c.1777A>T NP_001395360.1:p.Arg593Ter nonsense NM_001408432.1:c.1774A>T NP_001395361.1:p.Arg592Ter nonsense NM_001408433.1:c.1774A>T NP_001395362.1:p.Arg592Ter nonsense NM_001408434.1:c.1774A>T NP_001395363.1:p.Arg592Ter nonsense NM_001408435.1:c.1774A>T NP_001395364.1:p.Arg592Ter nonsense NM_001408436.1:c.1774A>T NP_001395365.1:p.Arg592Ter nonsense NM_001408437.1:c.1774A>T NP_001395366.1:p.Arg592Ter nonsense NM_001408438.1:c.1774A>T NP_001395367.1:p.Arg592Ter nonsense NM_001408439.1:c.1774A>T NP_001395368.1:p.Arg592Ter nonsense NM_001408440.1:c.1774A>T NP_001395369.1:p.Arg592Ter nonsense NM_001408441.1:c.1774A>T NP_001395370.1:p.Arg592Ter nonsense NM_001408442.1:c.1774A>T NP_001395371.1:p.Arg592Ter nonsense NM_001408443.1:c.1774A>T NP_001395372.1:p.Arg592Ter nonsense NM_001408444.1:c.1774A>T NP_001395373.1:p.Arg592Ter nonsense NM_001408445.1:c.1771A>T NP_001395374.1:p.Arg591Ter nonsense NM_001408446.1:c.1771A>T NP_001395375.1:p.Arg591Ter nonsense NM_001408447.1:c.1771A>T NP_001395376.1:p.Arg591Ter nonsense NM_001408448.1:c.1771A>T NP_001395377.1:p.Arg591Ter nonsense NM_001408450.1:c.1771A>T NP_001395379.1:p.Arg591Ter nonsense NM_001408451.1:c.1765A>T NP_001395380.1:p.Arg589Ter nonsense NM_001408452.1:c.1759A>T NP_001395381.1:p.Arg587Ter nonsense NM_001408453.1:c.1759A>T NP_001395382.1:p.Arg587Ter nonsense NM_001408454.1:c.1759A>T NP_001395383.1:p.Arg587Ter nonsense NM_001408455.1:c.1759A>T NP_001395384.1:p.Arg587Ter nonsense NM_001408456.1:c.1759A>T NP_001395385.1:p.Arg587Ter nonsense NM_001408457.1:c.1759A>T NP_001395386.1:p.Arg587Ter nonsense NM_001408458.1:c.1756A>T NP_001395387.1:p.Arg586Ter nonsense NM_001408459.1:c.1756A>T NP_001395388.1:p.Arg586Ter nonsense NM_001408460.1:c.1756A>T NP_001395389.1:p.Arg586Ter nonsense NM_001408461.1:c.1756A>T NP_001395390.1:p.Arg586Ter nonsense NM_001408462.1:c.1756A>T NP_001395391.1:p.Arg586Ter nonsense NM_001408463.1:c.1756A>T NP_001395392.1:p.Arg586Ter nonsense NM_001408464.1:c.1756A>T NP_001395393.1:p.Arg586Ter nonsense NM_001408465.1:c.1756A>T NP_001395394.1:p.Arg586Ter nonsense NM_001408466.1:c.1756A>T NP_001395395.1:p.Arg586Ter nonsense NM_001408467.1:c.1756A>T NP_001395396.1:p.Arg586Ter nonsense NM_001408468.1:c.1753A>T NP_001395397.1:p.Arg585Ter nonsense NM_001408469.1:c.1753A>T NP_001395398.1:p.Arg585Ter nonsense NM_001408470.1:c.1753A>T NP_001395399.1:p.Arg585Ter nonsense NM_001408472.1:c.1897A>T NP_001395401.1:p.Arg633Ter nonsense NM_001408473.1:c.1894A>T NP_001395402.1:p.Arg632Ter nonsense NM_001408474.1:c.1699A>T NP_001395403.1:p.Arg567Ter nonsense NM_001408475.1:c.1696A>T NP_001395404.1:p.Arg566Ter nonsense NM_001408476.1:c.1696A>T NP_001395405.1:p.Arg566Ter nonsense NM_001408478.1:c.1690A>T NP_001395407.1:p.Arg564Ter nonsense NM_001408479.1:c.1690A>T NP_001395408.1:p.Arg564Ter nonsense NM_001408480.1:c.1690A>T NP_001395409.1:p.Arg564Ter nonsense NM_001408481.1:c.1687A>T NP_001395410.1:p.Arg563Ter nonsense NM_001408482.1:c.1687A>T NP_001395411.1:p.Arg563Ter nonsense NM_001408483.1:c.1687A>T NP_001395412.1:p.Arg563Ter nonsense NM_001408484.1:c.1687A>T NP_001395413.1:p.Arg563Ter nonsense NM_001408485.1:c.1687A>T NP_001395414.1:p.Arg563Ter nonsense NM_001408489.1:c.1687A>T NP_001395418.1:p.Arg563Ter nonsense NM_001408490.1:c.1687A>T NP_001395419.1:p.Arg563Ter nonsense NM_001408491.1:c.1687A>T NP_001395420.1:p.Arg563Ter nonsense NM_001408492.1:c.1684A>T NP_001395421.1:p.Arg562Ter nonsense NM_001408493.1:c.1684A>T NP_001395422.1:p.Arg562Ter nonsense NM_001408494.1:c.1660A>T NP_001395423.1:p.Arg554Ter nonsense NM_001408495.1:c.1654A>T NP_001395424.1:p.Arg552Ter nonsense NM_001408496.1:c.1636A>T NP_001395425.1:p.Arg546Ter nonsense NM_001408497.1:c.1636A>T NP_001395426.1:p.Arg546Ter nonsense NM_001408498.1:c.1636A>T NP_001395427.1:p.Arg546Ter nonsense NM_001408499.1:c.1636A>T NP_001395428.1:p.Arg546Ter nonsense NM_001408500.1:c.1636A>T NP_001395429.1:p.Arg546Ter nonsense NM_001408501.1:c.1636A>T NP_001395430.1:p.Arg546Ter nonsense NM_001408502.1:c.1633A>T NP_001395431.1:p.Arg545Ter nonsense NM_001408503.1:c.1633A>T NP_001395432.1:p.Arg545Ter nonsense NM_001408504.1:c.1633A>T NP_001395433.1:p.Arg545Ter nonsense NM_001408505.1:c.1630A>T NP_001395434.1:p.Arg544Ter nonsense NM_001408506.1:c.1573A>T NP_001395435.1:p.Arg525Ter nonsense NM_001408507.1:c.1570A>T NP_001395436.1:p.Arg524Ter nonsense NM_001408508.1:c.1561A>T NP_001395437.1:p.Arg521Ter nonsense NM_001408509.1:c.1558A>T NP_001395438.1:p.Arg520Ter nonsense NM_001408510.1:c.1519A>T NP_001395439.1:p.Arg507Ter nonsense NM_001408511.1:c.1516A>T NP_001395440.1:p.Arg506Ter nonsense NM_001408512.1:c.1396A>T NP_001395441.1:p.Arg466Ter nonsense NM_001408513.1:c.1369A>T NP_001395442.1:p.Arg457Ter nonsense NM_001408514.1:c.973A>T NP_001395443.1:p.Arg325Ter nonsense NM_007297.4:c.5068A>T NP_009228.2:p.Arg1690Ter nonsense NM_007298.4:c.1897A>T NP_009229.2:p.Arg633Ter nonsense NM_007299.4:c.1897A>T NP_009230.2:p.Arg633Ter nonsense NM_007300.4:c.5272A>T NP_009231.2:p.Arg1758Ter nonsense NM_007304.2:c.1897A>T NP_009235.2:p.Arg633Ter nonsense NR_027676.2:n.5386A>T non-coding transcript variant NC_000017.11:g.43057120T>A NC_000017.10:g.41209137T>A NG_005905.2:g.160864A>T LRG_292:g.160864A>T LRG_292t1:c.5209A>T LRG_292p1:p.Arg1737Ter U14680.1:n.5328A>T - Protein change
- R1737*, R633*, R1690*, R1758*, R1568*, R1583*, R1609*, R1610*, R1649*, R1669*, R1693*, R1695*, R1710*, R1717*, R1736*, R466*, R507*, R520*, R521*, R562*, R594*, R630*, R868*, R1625*, R1665*, R1667*, R1670*, R1711*, R1718*, R1732*, R1734*, R1735*, R1757*, R506*, R545*, R563*, R587*, R591*, R595*, R607*, R632*, R869*, R1441*, R1648*, R1666*, R1668*, R1689*, R1696*, R1709*, R457*, R524*, R552*, R554*, R567*, R586*, R589*, R593*, R608*, R634*, R656*, R1440*, R1608*, R1624*, R1626*, R1647*, R1688*, R1694*, R1733*, R1759*, R325*, R525*, R544*, R546*, R564*, R566*, R585*, R592*, R609*, R631*, R655*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43057119:T:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5209A>T, a NONSENSE variant, produced a function score of -2, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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 (5) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112564.9 |
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: SCV000300223.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
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: SCV000326215.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Jun 20, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145394.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
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: SCV000591593.2 First in ClinVar: Aug 28, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Arg1737X variant was not identified in probands in the literature, but was identified in dbSNP (ID: rs80357496) “With Pathogenic allele”, LOVD, the ClinVar … (more)
The BRCA1 p.Arg1737X variant was not identified in probands in the literature, but was identified in dbSNP (ID: rs80357496) “With Pathogenic allele”, LOVD, the ClinVar database (submitted by BIC and Invitae), and the BIC database (1X with clinical importance; classified as pathogenic). The p.Arg1737X variant leads to a premature stop codon at position 1737, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In addition, a functional study by Chang (2009) showed that the variant protein exhibited reduced binding to promoters, suggesting that the variant is likely defective in the BRCA1 transcriptional activation function. Furthermore, a study using evolutionary conservation analysis predicted the variant to have a deleterious effect (Pettigrew 2005). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
|
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001242893.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.99741819563986
|
Comment:
Comment:
The BRCA1 p.Arg1737X variant was not identified in probands in the literature, but was identified in dbSNP (ID: rs80357496) “With Pathogenic allele”, LOVD, the ClinVar database (submitted by BIC and Invitae), and the BIC database (1X with clinical importance; classified as pathogenic). The p.Arg1737X variant leads to a premature stop codon at position 1737, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In addition, a functional study by Chang (2009) showed that the variant protein exhibited reduced binding to promoters, suggesting that the variant is likely defective in the BRCA1 transcriptional activation function. Furthermore, a study using evolutionary conservation analysis predicted the variant to have a deleterious effect (Pettigrew 2005). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001242893.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5209A>T, a NONSENSE variant, produced a function score of -2, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5209A>T, a NONSENSE variant, produced a function score of -2, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
The BRCA1 p.Arg1737X variant was not identified in probands in the literature, but was identified in dbSNP (ID: rs80357496) “With Pathogenic allele”, LOVD, the ClinVar database (submitted by BIC and Invitae), and the BIC database (1X with clinical importance; classified as pathogenic). The p.Arg1737X variant leads to a premature stop codon at position 1737, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In addition, a functional study by Chang (2009) showed that the variant protein exhibited reduced binding to promoters, suggesting that the variant is likely defective in the BRCA1 transcriptional activation function. Furthermore, a study using evolutionary conservation analysis predicted the variant to have a deleterious effect (Pettigrew 2005). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs80357496 ...
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Record last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.