ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5006C>T (p.Ala1669Val)
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.5006C>T (p.Ala1669Val)
Variation ID: 373827 Accession: VCV000373827.9
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43067676 (GRCh38) [ NCBI UCSC ] 17: 41219693 (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 Jan 9, 2017 May 1, 2024 Apr 28, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5006C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ala1669Val missense NM_001407571.1:c.4793C>T NP_001394500.1:p.Ala1598Val missense NM_001407581.1:c.5072C>T NP_001394510.1:p.Ala1691Val missense NM_001407582.1:c.5072C>T NP_001394511.1:p.Ala1691Val missense NM_001407583.1:c.5069C>T NP_001394512.1:p.Ala1690Val missense NM_001407585.1:c.5069C>T NP_001394514.1:p.Ala1690Val missense NM_001407587.1:c.5069C>T NP_001394516.1:p.Ala1690Val missense NM_001407590.1:c.5066C>T NP_001394519.1:p.Ala1689Val missense NM_001407591.1:c.5066C>T NP_001394520.1:p.Ala1689Val missense NM_001407593.1:c.5006C>T NP_001394522.1:p.Ala1669Val missense NM_001407594.1:c.5006C>T NP_001394523.1:p.Ala1669Val missense NM_001407596.1:c.5006C>T NP_001394525.1:p.Ala1669Val missense NM_001407597.1:c.5006C>T NP_001394526.1:p.Ala1669Val missense NM_001407598.1:c.5006C>T NP_001394527.1:p.Ala1669Val missense NM_001407602.1:c.5006C>T NP_001394531.1:p.Ala1669Val missense NM_001407603.1:c.5006C>T NP_001394532.1:p.Ala1669Val missense NM_001407605.1:c.5006C>T NP_001394534.1:p.Ala1669Val missense NM_001407610.1:c.5003C>T NP_001394539.1:p.Ala1668Val missense NM_001407611.1:c.5003C>T NP_001394540.1:p.Ala1668Val missense NM_001407612.1:c.5003C>T NP_001394541.1:p.Ala1668Val missense NM_001407613.1:c.5003C>T NP_001394542.1:p.Ala1668Val missense NM_001407614.1:c.5003C>T NP_001394543.1:p.Ala1668Val missense NM_001407615.1:c.5003C>T NP_001394544.1:p.Ala1668Val missense NM_001407616.1:c.5003C>T NP_001394545.1:p.Ala1668Val missense NM_001407617.1:c.5003C>T NP_001394546.1:p.Ala1668Val missense NM_001407618.1:c.5003C>T NP_001394547.1:p.Ala1668Val missense NM_001407619.1:c.5003C>T NP_001394548.1:p.Ala1668Val missense NM_001407620.1:c.5003C>T NP_001394549.1:p.Ala1668Val missense NM_001407621.1:c.5003C>T NP_001394550.1:p.Ala1668Val missense NM_001407622.1:c.5003C>T NP_001394551.1:p.Ala1668Val missense NM_001407623.1:c.5003C>T NP_001394552.1:p.Ala1668Val missense NM_001407624.1:c.5003C>T NP_001394553.1:p.Ala1668Val missense NM_001407625.1:c.5003C>T NP_001394554.1:p.Ala1668Val missense NM_001407626.1:c.5003C>T NP_001394555.1:p.Ala1668Val missense NM_001407627.1:c.5000C>T NP_001394556.1:p.Ala1667Val missense NM_001407628.1:c.5000C>T NP_001394557.1:p.Ala1667Val missense NM_001407629.1:c.5000C>T NP_001394558.1:p.Ala1667Val missense NM_001407630.1:c.5000C>T NP_001394559.1:p.Ala1667Val missense NM_001407631.1:c.5000C>T NP_001394560.1:p.Ala1667Val missense NM_001407632.1:c.5000C>T NP_001394561.1:p.Ala1667Val missense NM_001407633.1:c.5000C>T NP_001394562.1:p.Ala1667Val missense NM_001407634.1:c.5000C>T NP_001394563.1:p.Ala1667Val missense NM_001407635.1:c.5000C>T NP_001394564.1:p.Ala1667Val missense NM_001407636.1:c.5000C>T NP_001394565.1:p.Ala1667Val missense NM_001407637.1:c.5000C>T NP_001394566.1:p.Ala1667Val missense NM_001407638.1:c.5000C>T NP_001394567.1:p.Ala1667Val missense NM_001407639.1:c.5000C>T NP_001394568.1:p.Ala1667Val missense NM_001407640.1:c.5000C>T NP_001394569.1:p.Ala1667Val missense NM_001407641.1:c.5000C>T NP_001394570.1:p.Ala1667Val missense NM_001407642.1:c.5000C>T NP_001394571.1:p.Ala1667Val missense NM_001407644.1:c.4997C>T NP_001394573.1:p.Ala1666Val missense NM_001407645.1:c.4997C>T NP_001394574.1:p.Ala1666Val missense NM_001407646.1:c.4994C>T NP_001394575.1:p.Ala1665Val missense NM_001407647.1:c.4991C>T NP_001394576.1:p.Ala1664Val missense NM_001407648.1:c.4949C>T NP_001394577.1:p.Ala1650Val missense NM_001407649.1:c.4946C>T NP_001394578.1:p.Ala1649Val missense NM_001407652.1:c.5006C>T NP_001394581.1:p.Ala1669Val missense NM_001407653.1:c.4928C>T NP_001394582.1:p.Ala1643Val missense NM_001407654.1:c.4928C>T NP_001394583.1:p.Ala1643Val missense NM_001407655.1:c.4928C>T NP_001394584.1:p.Ala1643Val missense NM_001407656.1:c.4925C>T NP_001394585.1:p.Ala1642Val missense NM_001407657.1:c.4925C>T NP_001394586.1:p.Ala1642Val missense NM_001407658.1:c.4925C>T NP_001394587.1:p.Ala1642Val missense NM_001407659.1:c.4922C>T NP_001394588.1:p.Ala1641Val missense NM_001407660.1:c.4922C>T NP_001394589.1:p.Ala1641Val missense NM_001407661.1:c.4922C>T NP_001394590.1:p.Ala1641Val missense NM_001407662.1:c.4922C>T NP_001394591.1:p.Ala1641Val missense NM_001407663.1:c.4922C>T NP_001394592.1:p.Ala1641Val missense NM_001407664.1:c.4883C>T NP_001394593.1:p.Ala1628Val missense NM_001407665.1:c.4883C>T NP_001394594.1:p.Ala1628Val missense NM_001407666.1:c.4883C>T NP_001394595.1:p.Ala1628Val missense NM_001407667.1:c.4883C>T NP_001394596.1:p.Ala1628Val missense NM_001407668.1:c.4883C>T NP_001394597.1:p.Ala1628Val missense NM_001407669.1:c.4883C>T NP_001394598.1:p.Ala1628Val missense NM_001407670.1:c.4880C>T NP_001394599.1:p.Ala1627Val missense NM_001407671.1:c.4880C>T NP_001394600.1:p.Ala1627Val missense NM_001407672.1:c.4880C>T NP_001394601.1:p.Ala1627Val missense NM_001407673.1:c.4880C>T NP_001394602.1:p.Ala1627Val missense NM_001407674.1:c.4880C>T NP_001394603.1:p.Ala1627Val missense NM_001407675.1:c.4880C>T NP_001394604.1:p.Ala1627Val missense NM_001407676.1:c.4880C>T NP_001394605.1:p.Ala1627Val missense NM_001407677.1:c.4880C>T NP_001394606.1:p.Ala1627Val missense NM_001407678.1:c.4880C>T NP_001394607.1:p.Ala1627Val missense NM_001407679.1:c.4880C>T NP_001394608.1:p.Ala1627Val missense NM_001407680.1:c.4880C>T NP_001394609.1:p.Ala1627Val missense NM_001407681.1:c.4877C>T NP_001394610.1:p.Ala1626Val missense NM_001407682.1:c.4877C>T NP_001394611.1:p.Ala1626Val missense NM_001407683.1:c.4877C>T NP_001394612.1:p.Ala1626Val missense NM_001407684.1:c.5006C>T NP_001394613.1:p.Ala1669Val missense NM_001407685.1:c.4877C>T NP_001394614.1:p.Ala1626Val missense NM_001407686.1:c.4877C>T NP_001394615.1:p.Ala1626Val missense NM_001407687.1:c.4877C>T NP_001394616.1:p.Ala1626Val missense NM_001407688.1:c.4877C>T NP_001394617.1:p.Ala1626Val missense NM_001407689.1:c.4877C>T NP_001394618.1:p.Ala1626Val missense NM_001407690.1:c.4874C>T NP_001394619.1:p.Ala1625Val missense NM_001407691.1:c.4874C>T NP_001394620.1:p.Ala1625Val missense NM_001407692.1:c.4865C>T NP_001394621.1:p.Ala1622Val missense NM_001407694.1:c.4865C>T NP_001394623.1:p.Ala1622Val missense NM_001407695.1:c.4865C>T NP_001394624.1:p.Ala1622Val missense NM_001407696.1:c.4865C>T NP_001394625.1:p.Ala1622Val missense NM_001407697.1:c.4865C>T NP_001394626.1:p.Ala1622Val missense NM_001407698.1:c.4865C>T NP_001394627.1:p.Ala1622Val missense NM_001407724.1:c.4865C>T NP_001394653.1:p.Ala1622Val missense NM_001407725.1:c.4865C>T NP_001394654.1:p.Ala1622Val missense NM_001407726.1:c.4865C>T NP_001394655.1:p.Ala1622Val missense NM_001407727.1:c.4865C>T NP_001394656.1:p.Ala1622Val missense NM_001407728.1:c.4865C>T NP_001394657.1:p.Ala1622Val missense NM_001407729.1:c.4865C>T NP_001394658.1:p.Ala1622Val missense NM_001407730.1:c.4865C>T NP_001394659.1:p.Ala1622Val missense NM_001407731.1:c.4865C>T NP_001394660.1:p.Ala1622Val missense NM_001407732.1:c.4862C>T NP_001394661.1:p.Ala1621Val missense NM_001407733.1:c.4862C>T NP_001394662.1:p.Ala1621Val missense NM_001407734.1:c.4862C>T NP_001394663.1:p.Ala1621Val missense NM_001407735.1:c.4862C>T NP_001394664.1:p.Ala1621Val missense NM_001407736.1:c.4862C>T NP_001394665.1:p.Ala1621Val missense NM_001407737.1:c.4862C>T NP_001394666.1:p.Ala1621Val missense NM_001407738.1:c.4862C>T NP_001394667.1:p.Ala1621Val missense NM_001407739.1:c.4862C>T NP_001394668.1:p.Ala1621Val missense NM_001407740.1:c.4862C>T NP_001394669.1:p.Ala1621Val missense NM_001407741.1:c.4862C>T NP_001394670.1:p.Ala1621Val missense NM_001407742.1:c.4862C>T NP_001394671.1:p.Ala1621Val missense NM_001407743.1:c.4862C>T NP_001394672.1:p.Ala1621Val missense NM_001407744.1:c.4862C>T NP_001394673.1:p.Ala1621Val missense NM_001407745.1:c.4862C>T NP_001394674.1:p.Ala1621Val missense NM_001407746.1:c.4862C>T NP_001394675.1:p.Ala1621Val missense NM_001407747.1:c.4862C>T NP_001394676.1:p.Ala1621Val missense NM_001407748.1:c.4862C>T NP_001394677.1:p.Ala1621Val missense NM_001407749.1:c.4862C>T NP_001394678.1:p.Ala1621Val missense NM_001407750.1:c.4862C>T NP_001394679.1:p.Ala1621Val missense NM_001407751.1:c.4862C>T NP_001394680.1:p.Ala1621Val missense NM_001407752.1:c.4862C>T NP_001394681.1:p.Ala1621Val missense NM_001407838.1:c.4859C>T NP_001394767.1:p.Ala1620Val missense NM_001407839.1:c.4859C>T NP_001394768.1:p.Ala1620Val missense NM_001407841.1:c.4859C>T NP_001394770.1:p.Ala1620Val missense NM_001407842.1:c.4859C>T NP_001394771.1:p.Ala1620Val missense NM_001407843.1:c.4859C>T NP_001394772.1:p.Ala1620Val missense NM_001407844.1:c.4859C>T NP_001394773.1:p.Ala1620Val missense NM_001407845.1:c.4859C>T NP_001394774.1:p.Ala1620Val missense NM_001407846.1:c.4859C>T NP_001394775.1:p.Ala1620Val missense NM_001407847.1:c.4859C>T NP_001394776.1:p.Ala1620Val missense NM_001407848.1:c.4859C>T NP_001394777.1:p.Ala1620Val missense NM_001407849.1:c.4859C>T NP_001394778.1:p.Ala1620Val missense NM_001407850.1:c.4859C>T NP_001394779.1:p.Ala1620Val missense NM_001407851.1:c.4859C>T NP_001394780.1:p.Ala1620Val missense NM_001407852.1:c.4859C>T NP_001394781.1:p.Ala1620Val missense NM_001407853.1:c.4859C>T NP_001394782.1:p.Ala1620Val missense NM_001407854.1:c.5006C>T NP_001394783.1:p.Ala1669Val missense NM_001407858.1:c.5003C>T NP_001394787.1:p.Ala1668Val missense NM_001407859.1:c.5003C>T NP_001394788.1:p.Ala1668Val missense NM_001407860.1:c.5003C>T NP_001394789.1:p.Ala1668Val missense NM_001407861.1:c.5000C>T NP_001394790.1:p.Ala1667Val missense NM_001407862.1:c.4805C>T NP_001394791.1:p.Ala1602Val missense NM_001407863.1:c.4880C>T NP_001394792.1:p.Ala1627Val missense NM_001407874.1:c.4799C>T NP_001394803.1:p.Ala1600Val missense NM_001407875.1:c.4799C>T NP_001394804.1:p.Ala1600Val missense NM_001407879.1:c.4796C>T NP_001394808.1:p.Ala1599Val missense NM_001407881.1:c.4796C>T NP_001394810.1:p.Ala1599Val missense NM_001407882.1:c.4796C>T NP_001394811.1:p.Ala1599Val missense NM_001407884.1:c.4796C>T NP_001394813.1:p.Ala1599Val missense NM_001407885.1:c.4796C>T NP_001394814.1:p.Ala1599Val missense NM_001407886.1:c.4796C>T NP_001394815.1:p.Ala1599Val missense NM_001407887.1:c.4796C>T NP_001394816.1:p.Ala1599Val missense NM_001407889.1:c.4796C>T NP_001394818.1:p.Ala1599Val missense NM_001407894.1:c.4793C>T NP_001394823.1:p.Ala1598Val missense NM_001407895.1:c.4793C>T NP_001394824.1:p.Ala1598Val missense NM_001407896.1:c.4793C>T NP_001394825.1:p.Ala1598Val missense NM_001407897.1:c.4793C>T NP_001394826.1:p.Ala1598Val missense NM_001407898.1:c.4793C>T NP_001394827.1:p.Ala1598Val missense NM_001407899.1:c.4793C>T NP_001394828.1:p.Ala1598Val missense NM_001407900.1:c.4793C>T NP_001394829.1:p.Ala1598Val missense NM_001407902.1:c.4793C>T NP_001394831.1:p.Ala1598Val missense NM_001407904.1:c.4793C>T NP_001394833.1:p.Ala1598Val missense NM_001407906.1:c.4793C>T NP_001394835.1:p.Ala1598Val missense NM_001407907.1:c.4793C>T NP_001394836.1:p.Ala1598Val missense NM_001407908.1:c.4793C>T NP_001394837.1:p.Ala1598Val missense NM_001407909.1:c.4793C>T NP_001394838.1:p.Ala1598Val missense NM_001407910.1:c.4793C>T NP_001394839.1:p.Ala1598Val missense NM_001407915.1:c.4790C>T NP_001394844.1:p.Ala1597Val missense NM_001407916.1:c.4790C>T NP_001394845.1:p.Ala1597Val missense NM_001407917.1:c.4790C>T NP_001394846.1:p.Ala1597Val missense NM_001407918.1:c.4790C>T NP_001394847.1:p.Ala1597Val missense NM_001407919.1:c.4883C>T NP_001394848.1:p.Ala1628Val missense NM_001407920.1:c.4742C>T NP_001394849.1:p.Ala1581Val missense NM_001407921.1:c.4742C>T NP_001394850.1:p.Ala1581Val missense NM_001407922.1:c.4742C>T NP_001394851.1:p.Ala1581Val missense NM_001407923.1:c.4742C>T NP_001394852.1:p.Ala1581Val missense NM_001407924.1:c.4742C>T NP_001394853.1:p.Ala1581Val missense NM_001407925.1:c.4742C>T NP_001394854.1:p.Ala1581Val missense NM_001407926.1:c.4742C>T NP_001394855.1:p.Ala1581Val missense NM_001407927.1:c.4739C>T NP_001394856.1:p.Ala1580Val missense NM_001407928.1:c.4739C>T NP_001394857.1:p.Ala1580Val missense NM_001407929.1:c.4739C>T NP_001394858.1:p.Ala1580Val missense NM_001407930.1:c.4739C>T NP_001394859.1:p.Ala1580Val missense NM_001407931.1:c.4739C>T NP_001394860.1:p.Ala1580Val missense NM_001407932.1:c.4739C>T NP_001394861.1:p.Ala1580Val missense NM_001407933.1:c.4739C>T NP_001394862.1:p.Ala1580Val missense NM_001407934.1:c.4736C>T NP_001394863.1:p.Ala1579Val missense NM_001407935.1:c.4736C>T NP_001394864.1:p.Ala1579Val missense NM_001407936.1:c.4736C>T NP_001394865.1:p.Ala1579Val missense NM_001407937.1:c.4883C>T NP_001394866.1:p.Ala1628Val missense NM_001407938.1:c.4883C>T NP_001394867.1:p.Ala1628Val missense NM_001407939.1:c.4880C>T NP_001394868.1:p.Ala1627Val missense NM_001407940.1:c.4880C>T NP_001394869.1:p.Ala1627Val missense NM_001407941.1:c.4877C>T NP_001394870.1:p.Ala1626Val missense NM_001407942.1:c.4865C>T NP_001394871.1:p.Ala1622Val missense NM_001407943.1:c.4862C>T NP_001394872.1:p.Ala1621Val missense NM_001407944.1:c.4862C>T NP_001394873.1:p.Ala1621Val missense NM_001407945.1:c.4862C>T NP_001394874.1:p.Ala1621Val missense NM_001407946.1:c.4673C>T NP_001394875.1:p.Ala1558Val missense NM_001407947.1:c.4673C>T NP_001394876.1:p.Ala1558Val missense NM_001407948.1:c.4673C>T NP_001394877.1:p.Ala1558Val missense NM_001407949.1:c.4673C>T NP_001394878.1:p.Ala1558Val missense NM_001407950.1:c.4670C>T NP_001394879.1:p.Ala1557Val missense NM_001407951.1:c.4670C>T NP_001394880.1:p.Ala1557Val missense NM_001407952.1:c.4670C>T NP_001394881.1:p.Ala1557Val missense NM_001407953.1:c.4670C>T NP_001394882.1:p.Ala1557Val missense NM_001407954.1:c.4670C>T NP_001394883.1:p.Ala1557Val missense NM_001407955.1:c.4670C>T NP_001394884.1:p.Ala1557Val missense NM_001407956.1:c.4667C>T NP_001394885.1:p.Ala1556Val missense NM_001407957.1:c.4667C>T NP_001394886.1:p.Ala1556Val missense NM_001407958.1:c.4667C>T NP_001394887.1:p.Ala1556Val missense NM_001407959.1:c.4625C>T NP_001394888.1:p.Ala1542Val missense NM_001407960.1:c.4622C>T NP_001394889.1:p.Ala1541Val missense NM_001407962.1:c.4622C>T NP_001394891.1:p.Ala1541Val missense NM_001407963.1:c.4619C>T NP_001394892.1:p.Ala1540Val missense NM_001407964.1:c.4544C>T NP_001394893.1:p.Ala1515Val missense NM_001407965.1:c.4499C>T NP_001394894.1:p.Ala1500Val missense NM_001407966.1:c.4118C>T NP_001394895.1:p.Ala1373Val missense NM_001407967.1:c.4115C>T NP_001394896.1:p.Ala1372Val missense NM_001407968.1:c.2402C>T NP_001394897.1:p.Ala801Val missense NM_001407969.1:c.2399C>T NP_001394898.1:p.Ala800Val missense NM_001407970.1:c.1763C>T NP_001394899.1:p.Ala588Val missense NM_001407971.1:c.1763C>T NP_001394900.1:p.Ala588Val missense NM_001407972.1:c.1760C>T NP_001394901.1:p.Ala587Val missense NM_001407973.1:c.1697C>T NP_001394902.1:p.Ala566Val missense NM_001407974.1:c.1697C>T NP_001394903.1:p.Ala566Val missense NM_001407975.1:c.1697C>T NP_001394904.1:p.Ala566Val missense NM_001407976.1:c.1697C>T NP_001394905.1:p.Ala566Val missense NM_001407977.1:c.1697C>T NP_001394906.1:p.Ala566Val missense NM_001407978.1:c.1697C>T NP_001394907.1:p.Ala566Val missense NM_001407979.1:c.1694C>T NP_001394908.1:p.Ala565Val missense NM_001407980.1:c.1694C>T NP_001394909.1:p.Ala565Val missense NM_001407981.1:c.1694C>T NP_001394910.1:p.Ala565Val missense NM_001407982.1:c.1694C>T NP_001394911.1:p.Ala565Val missense NM_001407983.1:c.1694C>T NP_001394912.1:p.Ala565Val missense NM_001407984.1:c.1694C>T NP_001394913.1:p.Ala565Val missense NM_001407985.1:c.1694C>T NP_001394914.1:p.Ala565Val missense NM_001407986.1:c.1694C>T NP_001394915.1:p.Ala565Val missense NM_001407990.1:c.1694C>T NP_001394919.1:p.Ala565Val missense NM_001407991.1:c.1694C>T NP_001394920.1:p.Ala565Val missense NM_001407992.1:c.1694C>T NP_001394921.1:p.Ala565Val missense NM_001407993.1:c.1694C>T NP_001394922.1:p.Ala565Val missense NM_001408392.1:c.1691C>T NP_001395321.1:p.Ala564Val missense NM_001408396.1:c.1691C>T NP_001395325.1:p.Ala564Val missense NM_001408397.1:c.1691C>T NP_001395326.1:p.Ala564Val missense NM_001408398.1:c.1691C>T NP_001395327.1:p.Ala564Val missense NM_001408399.1:c.1691C>T NP_001395328.1:p.Ala564Val missense NM_001408400.1:c.1691C>T NP_001395329.1:p.Ala564Val missense NM_001408401.1:c.1691C>T NP_001395330.1:p.Ala564Val missense NM_001408402.1:c.1691C>T NP_001395331.1:p.Ala564Val missense NM_001408403.1:c.1691C>T NP_001395332.1:p.Ala564Val missense NM_001408404.1:c.1691C>T NP_001395333.1:p.Ala564Val missense NM_001408406.1:c.1688C>T NP_001395335.1:p.Ala563Val missense NM_001408407.1:c.1688C>T NP_001395336.1:p.Ala563Val missense NM_001408408.1:c.1688C>T NP_001395337.1:p.Ala563Val missense NM_001408409.1:c.1685C>T NP_001395338.1:p.Ala562Val missense NM_001408410.1:c.1622C>T NP_001395339.1:p.Ala541Val missense NM_001408411.1:c.1619C>T NP_001395340.1:p.Ala540Val missense NM_001408412.1:c.1616C>T NP_001395341.1:p.Ala539Val missense NM_001408413.1:c.1616C>T NP_001395342.1:p.Ala539Val missense NM_001408414.1:c.1616C>T NP_001395343.1:p.Ala539Val missense NM_001408415.1:c.1616C>T NP_001395344.1:p.Ala539Val missense NM_001408416.1:c.1616C>T NP_001395345.1:p.Ala539Val missense NM_001408418.1:c.1580C>T NP_001395347.1:p.Ala527Val missense NM_001408419.1:c.1580C>T NP_001395348.1:p.Ala527Val missense NM_001408420.1:c.1580C>T NP_001395349.1:p.Ala527Val missense NM_001408421.1:c.1577C>T NP_001395350.1:p.Ala526Val missense NM_001408422.1:c.1577C>T NP_001395351.1:p.Ala526Val missense NM_001408423.1:c.1577C>T NP_001395352.1:p.Ala526Val missense NM_001408424.1:c.1577C>T NP_001395353.1:p.Ala526Val missense NM_001408425.1:c.1574C>T NP_001395354.1:p.Ala525Val missense NM_001408426.1:c.1574C>T NP_001395355.1:p.Ala525Val missense NM_001408427.1:c.1574C>T NP_001395356.1:p.Ala525Val missense NM_001408428.1:c.1574C>T NP_001395357.1:p.Ala525Val missense NM_001408429.1:c.1574C>T NP_001395358.1:p.Ala525Val missense NM_001408430.1:c.1574C>T NP_001395359.1:p.Ala525Val missense NM_001408431.1:c.1574C>T NP_001395360.1:p.Ala525Val missense NM_001408432.1:c.1571C>T NP_001395361.1:p.Ala524Val missense NM_001408433.1:c.1571C>T NP_001395362.1:p.Ala524Val missense NM_001408434.1:c.1571C>T NP_001395363.1:p.Ala524Val missense NM_001408435.1:c.1571C>T NP_001395364.1:p.Ala524Val missense NM_001408436.1:c.1571C>T NP_001395365.1:p.Ala524Val missense NM_001408437.1:c.1571C>T NP_001395366.1:p.Ala524Val missense NM_001408438.1:c.1571C>T NP_001395367.1:p.Ala524Val missense NM_001408439.1:c.1571C>T NP_001395368.1:p.Ala524Val missense NM_001408440.1:c.1571C>T NP_001395369.1:p.Ala524Val missense NM_001408441.1:c.1571C>T NP_001395370.1:p.Ala524Val missense NM_001408442.1:c.1571C>T NP_001395371.1:p.Ala524Val missense NM_001408443.1:c.1571C>T NP_001395372.1:p.Ala524Val missense NM_001408444.1:c.1571C>T NP_001395373.1:p.Ala524Val missense NM_001408445.1:c.1568C>T NP_001395374.1:p.Ala523Val missense NM_001408446.1:c.1568C>T NP_001395375.1:p.Ala523Val missense NM_001408447.1:c.1568C>T NP_001395376.1:p.Ala523Val missense NM_001408448.1:c.1568C>T NP_001395377.1:p.Ala523Val missense NM_001408450.1:c.1568C>T NP_001395379.1:p.Ala523Val missense NM_001408451.1:c.1562C>T NP_001395380.1:p.Ala521Val missense NM_001408452.1:c.1556C>T NP_001395381.1:p.Ala519Val missense NM_001408453.1:c.1556C>T NP_001395382.1:p.Ala519Val missense NM_001408454.1:c.1556C>T NP_001395383.1:p.Ala519Val missense NM_001408455.1:c.1556C>T NP_001395384.1:p.Ala519Val missense NM_001408456.1:c.1556C>T NP_001395385.1:p.Ala519Val missense NM_001408457.1:c.1556C>T NP_001395386.1:p.Ala519Val missense NM_001408458.1:c.1553C>T NP_001395387.1:p.Ala518Val missense NM_001408459.1:c.1553C>T NP_001395388.1:p.Ala518Val missense NM_001408460.1:c.1553C>T NP_001395389.1:p.Ala518Val missense NM_001408461.1:c.1553C>T NP_001395390.1:p.Ala518Val missense NM_001408462.1:c.1553C>T NP_001395391.1:p.Ala518Val missense NM_001408463.1:c.1553C>T NP_001395392.1:p.Ala518Val missense NM_001408464.1:c.1553C>T NP_001395393.1:p.Ala518Val missense NM_001408465.1:c.1553C>T NP_001395394.1:p.Ala518Val missense NM_001408466.1:c.1553C>T NP_001395395.1:p.Ala518Val missense NM_001408467.1:c.1553C>T NP_001395396.1:p.Ala518Val missense NM_001408468.1:c.1550C>T NP_001395397.1:p.Ala517Val missense NM_001408469.1:c.1550C>T NP_001395398.1:p.Ala517Val missense NM_001408470.1:c.1550C>T NP_001395399.1:p.Ala517Val missense NM_001408472.1:c.1694C>T NP_001395401.1:p.Ala565Val missense NM_001408473.1:c.1691C>T NP_001395402.1:p.Ala564Val missense NM_001408474.1:c.1496C>T NP_001395403.1:p.Ala499Val missense NM_001408475.1:c.1493C>T NP_001395404.1:p.Ala498Val missense NM_001408476.1:c.1493C>T NP_001395405.1:p.Ala498Val missense NM_001408478.1:c.1487C>T NP_001395407.1:p.Ala496Val missense NM_001408479.1:c.1487C>T NP_001395408.1:p.Ala496Val missense NM_001408480.1:c.1487C>T NP_001395409.1:p.Ala496Val missense NM_001408481.1:c.1484C>T NP_001395410.1:p.Ala495Val missense NM_001408482.1:c.1484C>T NP_001395411.1:p.Ala495Val missense NM_001408483.1:c.1484C>T NP_001395412.1:p.Ala495Val missense NM_001408484.1:c.1484C>T NP_001395413.1:p.Ala495Val missense NM_001408485.1:c.1484C>T NP_001395414.1:p.Ala495Val missense NM_001408489.1:c.1484C>T NP_001395418.1:p.Ala495Val missense NM_001408490.1:c.1484C>T NP_001395419.1:p.Ala495Val missense NM_001408491.1:c.1484C>T NP_001395420.1:p.Ala495Val missense NM_001408492.1:c.1481C>T NP_001395421.1:p.Ala494Val missense NM_001408493.1:c.1481C>T NP_001395422.1:p.Ala494Val missense NM_001408494.1:c.1457C>T NP_001395423.1:p.Ala486Val missense NM_001408495.1:c.1451C>T NP_001395424.1:p.Ala484Val missense NM_001408496.1:c.1433C>T NP_001395425.1:p.Ala478Val missense NM_001408497.1:c.1433C>T NP_001395426.1:p.Ala478Val missense NM_001408498.1:c.1433C>T NP_001395427.1:p.Ala478Val missense NM_001408499.1:c.1433C>T NP_001395428.1:p.Ala478Val missense NM_001408500.1:c.1433C>T NP_001395429.1:p.Ala478Val missense NM_001408501.1:c.1433C>T NP_001395430.1:p.Ala478Val missense NM_001408502.1:c.1430C>T NP_001395431.1:p.Ala477Val missense NM_001408503.1:c.1430C>T NP_001395432.1:p.Ala477Val missense NM_001408504.1:c.1430C>T NP_001395433.1:p.Ala477Val missense NM_001408505.1:c.1427C>T NP_001395434.1:p.Ala476Val missense NM_001408506.1:c.1370C>T NP_001395435.1:p.Ala457Val missense NM_001408507.1:c.1367C>T NP_001395436.1:p.Ala456Val missense NM_001408508.1:c.1358C>T NP_001395437.1:p.Ala453Val missense NM_001408509.1:c.1355C>T NP_001395438.1:p.Ala452Val missense NM_001408510.1:c.1316C>T NP_001395439.1:p.Ala439Val missense NM_001408511.1:c.1313C>T NP_001395440.1:p.Ala438Val missense NM_001408512.1:c.1193C>T NP_001395441.1:p.Ala398Val missense NM_001408513.1:c.1166C>T NP_001395442.1:p.Ala389Val missense NM_007297.4:c.4865C>T NP_009228.2:p.Ala1622Val missense NM_007298.4:c.1694C>T NP_009229.2:p.Ala565Val missense NM_007299.4:c.1694C>T NP_009230.2:p.Ala565Val missense NM_007300.4:c.5069C>T NP_009231.2:p.Ala1690Val missense NM_007304.2:c.1694C>T NP_009235.2:p.Ala565Val missense NR_027676.2:n.5183C>T non-coding transcript variant NC_000017.11:g.43067676G>A NC_000017.10:g.41219693G>A NG_005905.2:g.150308C>T LRG_292:g.150308C>T LRG_292t1:c.5006C>T LRG_292p1:p.Ala1669Val - Protein change
- A1669V, A1690V, A1622V, A565V, A1500V, A1557V, A1579V, A1581V, A1602V, A1627V, A1643V, A438V, A453V, A456V, A457V, A478V, A484V, A521V, A539V, A563V, A587V, A1373V, A1542V, A1580V, A1599V, A1621V, A1650V, A1665V, A1667V, A389V, A439V, A452V, A476V, A496V, A541V, A566V, A1372V, A1540V, A1556V, A1558V, A1597V, A1600V, A1625V, A1628V, A1642V, A1664V, A1666V, A1689V, A1691V, A398V, A477V, A498V, A499V, A518V, A519V, A524V, A525V, A527V, A562V, A801V, A1515V, A1541V, A1598V, A1620V, A1626V, A1641V, A1649V, A1668V, A486V, A494V, A495V, A517V, A523V, A526V, A540V, A564V, A588V, A800V
- Other names
- -
- Canonical SPDI
- NC_000017.11:43067675:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 |
13037 | 14843 |
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
- | RCV000413034.2 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Dec 2, 2021 | RCV000818830.6 | |
Uncertain significance (2) |
criteria provided, multiple submitters, no conflicts
|
Apr 28, 2023 | RCV003298425.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Uncertain significance
(-)
|
criteria provided, single submitter
Method: research
|
Breast Cancer
Affected status: yes
Allele origin:
germline
|
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center
Accession: SCV000492479.1
First in ClinVar: Jan 09, 2017 Last updated: Jan 09, 2017 |
|
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Uncertain significance
(Dec 02, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000959464.4
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399, 30765603). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 373827). This variant is also known as c.5125C>T. This missense change has been observed in individual(s) with breast cancer (PMID: 23469205, 29868112). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1669 of the BRCA1 protein (p.Ala1669Val). (less)
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Uncertain significance
(Sep 16, 2021)
|
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: SCV004360139.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces alanine with valine at codon 1669 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces alanine with valine at codon 1669 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with breast cancer (PMID: 23469205, 29868112). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
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Uncertain significance
(Apr 28, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV004004329.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The p.A1669V variant (also known as c.5006C>T), located in coding exon 15 of the BRCA1 gene, results from a C to T substitution at nucleotide … (more)
The p.A1669V variant (also known as c.5006C>T), located in coding exon 15 of the BRCA1 gene, results from a C to T substitution at nucleotide position 5006. The alanine at codon 1669 is replaced by valine, an amino acid with similar properties. This alteration was identified in an individual diagnosed with a triple negative breast cancer (Torrezan GT et al. Front Genet, 2018 May;9:161). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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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Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. | Fernandes VC | The Journal of biological chemistry | 2019 | PMID: 30765603 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. | Torrezan GT | Frontiers in genetics | 2018 | PMID: 29868112 |
Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. | Carraro DM | PloS one | 2013 | PMID: 23469205 |
Text-mined citations for rs1057518640 ...
HelpRecord last updated Sep 29, 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.