ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5232A>T (p.Arg1744Ser)
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.5232A>T (p.Arg1744Ser)
Variation ID: 867874 Accession: VCV000867874.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43057097 (GRCh38) [ NCBI UCSC ] 17: 41209114 (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 18, 2020 Apr 18, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.5232A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Arg1744Ser missense NM_001407571.1:c.5019A>T NP_001394500.1:p.Arg1673Ser missense NM_001407581.1:c.5298A>T NP_001394510.1:p.Arg1766Ser missense NM_001407582.1:c.5298A>T NP_001394511.1:p.Arg1766Ser missense NM_001407583.1:c.5295A>T NP_001394512.1:p.Arg1765Ser missense NM_001407585.1:c.5295A>T NP_001394514.1:p.Arg1765Ser missense NM_001407587.1:c.5295A>T NP_001394516.1:p.Arg1765Ser missense NM_001407590.1:c.5292A>T NP_001394519.1:p.Arg1764Ser missense NM_001407591.1:c.5292A>T NP_001394520.1:p.Arg1764Ser missense NM_001407593.1:c.5232A>T NP_001394522.1:p.Arg1744Ser missense NM_001407594.1:c.5232A>T NP_001394523.1:p.Arg1744Ser missense NM_001407596.1:c.5232A>T NP_001394525.1:p.Arg1744Ser missense NM_001407597.1:c.5232A>T NP_001394526.1:p.Arg1744Ser missense NM_001407598.1:c.5232A>T NP_001394527.1:p.Arg1744Ser missense NM_001407602.1:c.5232A>T NP_001394531.1:p.Arg1744Ser missense NM_001407603.1:c.5232A>T NP_001394532.1:p.Arg1744Ser missense NM_001407605.1:c.5232A>T NP_001394534.1:p.Arg1744Ser missense NM_001407610.1:c.5229A>T NP_001394539.1:p.Arg1743Ser missense NM_001407611.1:c.5229A>T NP_001394540.1:p.Arg1743Ser missense NM_001407612.1:c.5229A>T NP_001394541.1:p.Arg1743Ser missense NM_001407613.1:c.5229A>T NP_001394542.1:p.Arg1743Ser missense NM_001407614.1:c.5229A>T NP_001394543.1:p.Arg1743Ser missense NM_001407615.1:c.5229A>T NP_001394544.1:p.Arg1743Ser missense NM_001407616.1:c.5229A>T NP_001394545.1:p.Arg1743Ser missense NM_001407617.1:c.5229A>T NP_001394546.1:p.Arg1743Ser missense NM_001407618.1:c.5229A>T NP_001394547.1:p.Arg1743Ser missense NM_001407619.1:c.5229A>T NP_001394548.1:p.Arg1743Ser missense NM_001407620.1:c.5229A>T NP_001394549.1:p.Arg1743Ser missense NM_001407621.1:c.5229A>T NP_001394550.1:p.Arg1743Ser missense NM_001407622.1:c.5229A>T NP_001394551.1:p.Arg1743Ser missense NM_001407623.1:c.5229A>T NP_001394552.1:p.Arg1743Ser missense NM_001407624.1:c.5229A>T NP_001394553.1:p.Arg1743Ser missense NM_001407625.1:c.5229A>T NP_001394554.1:p.Arg1743Ser missense NM_001407626.1:c.5229A>T NP_001394555.1:p.Arg1743Ser missense NM_001407627.1:c.5226A>T NP_001394556.1:p.Arg1742Ser missense NM_001407628.1:c.5226A>T NP_001394557.1:p.Arg1742Ser missense NM_001407629.1:c.5226A>T NP_001394558.1:p.Arg1742Ser missense NM_001407630.1:c.5226A>T NP_001394559.1:p.Arg1742Ser missense NM_001407631.1:c.5226A>T NP_001394560.1:p.Arg1742Ser missense NM_001407632.1:c.5226A>T NP_001394561.1:p.Arg1742Ser missense NM_001407633.1:c.5226A>T NP_001394562.1:p.Arg1742Ser missense NM_001407634.1:c.5226A>T NP_001394563.1:p.Arg1742Ser missense NM_001407635.1:c.5226A>T NP_001394564.1:p.Arg1742Ser missense NM_001407636.1:c.5226A>T NP_001394565.1:p.Arg1742Ser missense NM_001407637.1:c.5226A>T NP_001394566.1:p.Arg1742Ser missense NM_001407638.1:c.5226A>T NP_001394567.1:p.Arg1742Ser missense NM_001407639.1:c.5226A>T NP_001394568.1:p.Arg1742Ser missense NM_001407640.1:c.5226A>T NP_001394569.1:p.Arg1742Ser missense NM_001407641.1:c.5226A>T NP_001394570.1:p.Arg1742Ser missense NM_001407642.1:c.5226A>T NP_001394571.1:p.Arg1742Ser missense NM_001407644.1:c.5223A>T NP_001394573.1:p.Arg1741Ser missense NM_001407645.1:c.5223A>T NP_001394574.1:p.Arg1741Ser missense NM_001407646.1:c.5220A>T NP_001394575.1:p.Arg1740Ser missense NM_001407647.1:c.5217A>T NP_001394576.1:p.Arg1739Ser missense NM_001407648.1:c.5175A>T NP_001394577.1:p.Arg1725Ser missense NM_001407649.1:c.5172A>T NP_001394578.1:p.Arg1724Ser missense NM_001407652.1:c.5154A>T NP_001394581.1:p.Arg1718Ser missense NM_001407653.1:c.5154A>T NP_001394582.1:p.Arg1718Ser missense NM_001407654.1:c.5154A>T NP_001394583.1:p.Arg1718Ser missense NM_001407655.1:c.5154A>T NP_001394584.1:p.Arg1718Ser missense NM_001407656.1:c.5151A>T NP_001394585.1:p.Arg1717Ser missense NM_001407657.1:c.5151A>T NP_001394586.1:p.Arg1717Ser missense NM_001407658.1:c.5151A>T NP_001394587.1:p.Arg1717Ser missense NM_001407659.1:c.5148A>T NP_001394588.1:p.Arg1716Ser missense NM_001407660.1:c.5148A>T NP_001394589.1:p.Arg1716Ser missense NM_001407661.1:c.5148A>T NP_001394590.1:p.Arg1716Ser missense NM_001407662.1:c.5148A>T NP_001394591.1:p.Arg1716Ser missense NM_001407663.1:c.5148A>T NP_001394592.1:p.Arg1716Ser missense NM_001407664.1:c.5109A>T NP_001394593.1:p.Arg1703Ser missense NM_001407665.1:c.5109A>T NP_001394594.1:p.Arg1703Ser missense NM_001407666.1:c.5109A>T NP_001394595.1:p.Arg1703Ser missense NM_001407667.1:c.5109A>T NP_001394596.1:p.Arg1703Ser missense NM_001407668.1:c.5109A>T NP_001394597.1:p.Arg1703Ser missense NM_001407669.1:c.5109A>T NP_001394598.1:p.Arg1703Ser missense NM_001407670.1:c.5106A>T NP_001394599.1:p.Arg1702Ser missense NM_001407671.1:c.5106A>T NP_001394600.1:p.Arg1702Ser missense NM_001407672.1:c.5106A>T NP_001394601.1:p.Arg1702Ser missense NM_001407673.1:c.5106A>T NP_001394602.1:p.Arg1702Ser missense NM_001407674.1:c.5106A>T NP_001394603.1:p.Arg1702Ser missense NM_001407675.1:c.5106A>T NP_001394604.1:p.Arg1702Ser missense NM_001407676.1:c.5106A>T NP_001394605.1:p.Arg1702Ser missense NM_001407677.1:c.5106A>T NP_001394606.1:p.Arg1702Ser missense NM_001407678.1:c.5106A>T NP_001394607.1:p.Arg1702Ser missense NM_001407679.1:c.5106A>T NP_001394608.1:p.Arg1702Ser missense NM_001407680.1:c.5106A>T NP_001394609.1:p.Arg1702Ser missense NM_001407681.1:c.5103A>T NP_001394610.1:p.Arg1701Ser missense NM_001407682.1:c.5103A>T NP_001394611.1:p.Arg1701Ser missense NM_001407683.1:c.5103A>T NP_001394612.1:p.Arg1701Ser missense NM_001407684.1:c.5232A>T NP_001394613.1:p.Arg1744Ser missense NM_001407685.1:c.5103A>T NP_001394614.1:p.Arg1701Ser missense NM_001407686.1:c.5103A>T NP_001394615.1:p.Arg1701Ser missense NM_001407687.1:c.5103A>T NP_001394616.1:p.Arg1701Ser missense NM_001407688.1:c.5103A>T NP_001394617.1:p.Arg1701Ser missense NM_001407689.1:c.5103A>T NP_001394618.1:p.Arg1701Ser missense NM_001407690.1:c.5100A>T NP_001394619.1:p.Arg1700Ser missense NM_001407691.1:c.5100A>T NP_001394620.1:p.Arg1700Ser missense NM_001407692.1:c.5091A>T NP_001394621.1:p.Arg1697Ser missense NM_001407694.1:c.5091A>T NP_001394623.1:p.Arg1697Ser missense NM_001407695.1:c.5091A>T NP_001394624.1:p.Arg1697Ser missense NM_001407696.1:c.5091A>T NP_001394625.1:p.Arg1697Ser missense NM_001407697.1:c.5091A>T NP_001394626.1:p.Arg1697Ser missense NM_001407698.1:c.5091A>T NP_001394627.1:p.Arg1697Ser missense NM_001407724.1:c.5091A>T NP_001394653.1:p.Arg1697Ser missense NM_001407725.1:c.5091A>T NP_001394654.1:p.Arg1697Ser missense NM_001407726.1:c.5091A>T NP_001394655.1:p.Arg1697Ser missense NM_001407727.1:c.5091A>T NP_001394656.1:p.Arg1697Ser missense NM_001407728.1:c.5091A>T NP_001394657.1:p.Arg1697Ser missense NM_001407729.1:c.5091A>T NP_001394658.1:p.Arg1697Ser missense NM_001407730.1:c.5091A>T NP_001394659.1:p.Arg1697Ser missense NM_001407731.1:c.5091A>T NP_001394660.1:p.Arg1697Ser missense NM_001407732.1:c.5088A>T NP_001394661.1:p.Arg1696Ser missense NM_001407733.1:c.5088A>T NP_001394662.1:p.Arg1696Ser missense NM_001407734.1:c.5088A>T NP_001394663.1:p.Arg1696Ser missense NM_001407735.1:c.5088A>T NP_001394664.1:p.Arg1696Ser missense NM_001407736.1:c.5088A>T NP_001394665.1:p.Arg1696Ser missense NM_001407737.1:c.5088A>T NP_001394666.1:p.Arg1696Ser missense NM_001407738.1:c.5088A>T NP_001394667.1:p.Arg1696Ser missense NM_001407739.1:c.5088A>T NP_001394668.1:p.Arg1696Ser missense NM_001407740.1:c.5088A>T NP_001394669.1:p.Arg1696Ser missense NM_001407741.1:c.5088A>T NP_001394670.1:p.Arg1696Ser missense NM_001407742.1:c.5088A>T NP_001394671.1:p.Arg1696Ser missense NM_001407743.1:c.5088A>T NP_001394672.1:p.Arg1696Ser missense NM_001407744.1:c.5088A>T NP_001394673.1:p.Arg1696Ser missense NM_001407745.1:c.5088A>T NP_001394674.1:p.Arg1696Ser missense NM_001407746.1:c.5088A>T NP_001394675.1:p.Arg1696Ser missense NM_001407747.1:c.5088A>T NP_001394676.1:p.Arg1696Ser missense NM_001407748.1:c.5088A>T NP_001394677.1:p.Arg1696Ser missense NM_001407749.1:c.5088A>T NP_001394678.1:p.Arg1696Ser missense NM_001407750.1:c.5088A>T NP_001394679.1:p.Arg1696Ser missense NM_001407751.1:c.5088A>T NP_001394680.1:p.Arg1696Ser missense NM_001407752.1:c.5088A>T NP_001394681.1:p.Arg1696Ser missense NM_001407838.1:c.5085A>T NP_001394767.1:p.Arg1695Ser missense NM_001407839.1:c.5085A>T NP_001394768.1:p.Arg1695Ser missense NM_001407841.1:c.5085A>T NP_001394770.1:p.Arg1695Ser missense NM_001407842.1:c.5085A>T NP_001394771.1:p.Arg1695Ser missense NM_001407843.1:c.5085A>T NP_001394772.1:p.Arg1695Ser missense NM_001407844.1:c.5085A>T NP_001394773.1:p.Arg1695Ser missense NM_001407845.1:c.5085A>T NP_001394774.1:p.Arg1695Ser missense NM_001407846.1:c.5085A>T NP_001394775.1:p.Arg1695Ser missense NM_001407847.1:c.5085A>T NP_001394776.1:p.Arg1695Ser missense NM_001407848.1:c.5085A>T NP_001394777.1:p.Arg1695Ser missense NM_001407849.1:c.5085A>T NP_001394778.1:p.Arg1695Ser missense NM_001407850.1:c.5085A>T NP_001394779.1:p.Arg1695Ser missense NM_001407851.1:c.5085A>T NP_001394780.1:p.Arg1695Ser missense NM_001407852.1:c.5085A>T NP_001394781.1:p.Arg1695Ser missense NM_001407853.1:c.5085A>T NP_001394782.1:p.Arg1695Ser missense NM_001407854.1:c.5232A>T NP_001394783.1:p.Arg1744Ser missense NM_001407858.1:c.5229A>T NP_001394787.1:p.Arg1743Ser missense NM_001407859.1:c.5229A>T NP_001394788.1:p.Arg1743Ser missense NM_001407860.1:c.5229A>T NP_001394789.1:p.Arg1743Ser missense NM_001407861.1:c.5226A>T NP_001394790.1:p.Arg1742Ser missense NM_001407862.1:c.5031A>T NP_001394791.1:p.Arg1677Ser missense NM_001407863.1:c.5028A>T NP_001394792.1:p.Arg1676Ser missense NM_001407874.1:c.5025A>T NP_001394803.1:p.Arg1675Ser missense NM_001407875.1:c.5025A>T NP_001394804.1:p.Arg1675Ser missense NM_001407879.1:c.5022A>T NP_001394808.1:p.Arg1674Ser missense NM_001407881.1:c.5022A>T NP_001394810.1:p.Arg1674Ser missense NM_001407882.1:c.5022A>T NP_001394811.1:p.Arg1674Ser missense NM_001407884.1:c.5022A>T NP_001394813.1:p.Arg1674Ser missense NM_001407885.1:c.5022A>T NP_001394814.1:p.Arg1674Ser missense NM_001407886.1:c.5022A>T NP_001394815.1:p.Arg1674Ser missense NM_001407887.1:c.5022A>T NP_001394816.1:p.Arg1674Ser missense NM_001407889.1:c.5022A>T NP_001394818.1:p.Arg1674Ser missense NM_001407894.1:c.5019A>T NP_001394823.1:p.Arg1673Ser missense NM_001407895.1:c.5019A>T NP_001394824.1:p.Arg1673Ser missense NM_001407896.1:c.5019A>T NP_001394825.1:p.Arg1673Ser missense NM_001407897.1:c.5019A>T NP_001394826.1:p.Arg1673Ser missense NM_001407898.1:c.5019A>T NP_001394827.1:p.Arg1673Ser missense NM_001407899.1:c.5019A>T NP_001394828.1:p.Arg1673Ser missense NM_001407900.1:c.5019A>T NP_001394829.1:p.Arg1673Ser missense NM_001407902.1:c.5019A>T NP_001394831.1:p.Arg1673Ser missense NM_001407904.1:c.5019A>T NP_001394833.1:p.Arg1673Ser missense NM_001407906.1:c.5019A>T NP_001394835.1:p.Arg1673Ser missense NM_001407907.1:c.5019A>T NP_001394836.1:p.Arg1673Ser missense NM_001407908.1:c.5019A>T NP_001394837.1:p.Arg1673Ser missense NM_001407909.1:c.5019A>T NP_001394838.1:p.Arg1673Ser missense NM_001407910.1:c.5019A>T NP_001394839.1:p.Arg1673Ser missense NM_001407915.1:c.5016A>T NP_001394844.1:p.Arg1672Ser missense NM_001407916.1:c.5016A>T NP_001394845.1:p.Arg1672Ser missense NM_001407917.1:c.5016A>T NP_001394846.1:p.Arg1672Ser missense NM_001407918.1:c.5016A>T NP_001394847.1:p.Arg1672Ser missense NM_001407919.1:c.5109A>T NP_001394848.1:p.Arg1703Ser missense NM_001407920.1:c.4968A>T NP_001394849.1:p.Arg1656Ser missense NM_001407921.1:c.4968A>T NP_001394850.1:p.Arg1656Ser missense NM_001407922.1:c.4968A>T NP_001394851.1:p.Arg1656Ser missense NM_001407923.1:c.4968A>T NP_001394852.1:p.Arg1656Ser missense NM_001407924.1:c.4968A>T NP_001394853.1:p.Arg1656Ser missense NM_001407925.1:c.4968A>T NP_001394854.1:p.Arg1656Ser missense NM_001407926.1:c.4968A>T NP_001394855.1:p.Arg1656Ser missense NM_001407927.1:c.4965A>T NP_001394856.1:p.Arg1655Ser missense NM_001407928.1:c.4965A>T NP_001394857.1:p.Arg1655Ser missense NM_001407929.1:c.4965A>T NP_001394858.1:p.Arg1655Ser missense NM_001407930.1:c.4965A>T NP_001394859.1:p.Arg1655Ser missense NM_001407931.1:c.4965A>T NP_001394860.1:p.Arg1655Ser missense NM_001407932.1:c.4965A>T NP_001394861.1:p.Arg1655Ser missense NM_001407933.1:c.4965A>T NP_001394862.1:p.Arg1655Ser missense NM_001407934.1:c.4962A>T NP_001394863.1:p.Arg1654Ser missense NM_001407935.1:c.4962A>T NP_001394864.1:p.Arg1654Ser missense NM_001407936.1:c.4962A>T NP_001394865.1:p.Arg1654Ser missense NM_001407937.1:c.5109A>T NP_001394866.1:p.Arg1703Ser missense NM_001407938.1:c.5109A>T NP_001394867.1:p.Arg1703Ser missense NM_001407939.1:c.5106A>T NP_001394868.1:p.Arg1702Ser missense NM_001407940.1:c.5106A>T NP_001394869.1:p.Arg1702Ser missense NM_001407941.1:c.5103A>T NP_001394870.1:p.Arg1701Ser missense NM_001407942.1:c.5091A>T NP_001394871.1:p.Arg1697Ser missense NM_001407943.1:c.5088A>T NP_001394872.1:p.Arg1696Ser missense NM_001407944.1:c.5088A>T NP_001394873.1:p.Arg1696Ser missense NM_001407945.1:c.5088A>T NP_001394874.1:p.Arg1696Ser missense NM_001407946.1:c.4899A>T NP_001394875.1:p.Arg1633Ser missense NM_001407947.1:c.4899A>T NP_001394876.1:p.Arg1633Ser missense NM_001407948.1:c.4899A>T NP_001394877.1:p.Arg1633Ser missense NM_001407949.1:c.4899A>T NP_001394878.1:p.Arg1633Ser missense NM_001407950.1:c.4896A>T NP_001394879.1:p.Arg1632Ser missense NM_001407951.1:c.4896A>T NP_001394880.1:p.Arg1632Ser missense NM_001407952.1:c.4896A>T NP_001394881.1:p.Arg1632Ser missense NM_001407953.1:c.4896A>T NP_001394882.1:p.Arg1632Ser missense NM_001407954.1:c.4896A>T NP_001394883.1:p.Arg1632Ser missense NM_001407955.1:c.4896A>T NP_001394884.1:p.Arg1632Ser missense NM_001407956.1:c.4893A>T NP_001394885.1:p.Arg1631Ser missense NM_001407957.1:c.4893A>T NP_001394886.1:p.Arg1631Ser missense NM_001407958.1:c.4893A>T NP_001394887.1:p.Arg1631Ser missense NM_001407959.1:c.4851A>T NP_001394888.1:p.Arg1617Ser missense NM_001407960.1:c.4848A>T NP_001394889.1:p.Arg1616Ser missense NM_001407962.1:c.4848A>T NP_001394891.1:p.Arg1616Ser missense NM_001407963.1:c.4845A>T NP_001394892.1:p.Arg1615Ser missense NM_001407964.1:c.4770A>T NP_001394893.1:p.Arg1590Ser missense NM_001407965.1:c.4725A>T NP_001394894.1:p.Arg1575Ser missense NM_001407966.1:c.4344A>T NP_001394895.1:p.Arg1448Ser missense NM_001407967.1:c.4341A>T NP_001394896.1:p.Arg1447Ser missense NM_001407968.1:c.2628A>T NP_001394897.1:p.Arg876Ser missense NM_001407969.1:c.2625A>T NP_001394898.1:p.Arg875Ser missense NM_001407970.1:c.1989A>T NP_001394899.1:p.Arg663Ser missense NM_001407971.1:c.1989A>T NP_001394900.1:p.Arg663Ser missense NM_001407972.1:c.1986A>T NP_001394901.1:p.Arg662Ser missense NM_001407973.1:c.1923A>T NP_001394902.1:p.Arg641Ser missense NM_001407974.1:c.1923A>T NP_001394903.1:p.Arg641Ser missense NM_001407975.1:c.1923A>T NP_001394904.1:p.Arg641Ser missense NM_001407976.1:c.1923A>T NP_001394905.1:p.Arg641Ser missense NM_001407977.1:c.1923A>T NP_001394906.1:p.Arg641Ser missense NM_001407978.1:c.1923A>T NP_001394907.1:p.Arg641Ser missense NM_001407979.1:c.1920A>T NP_001394908.1:p.Arg640Ser missense NM_001407980.1:c.1920A>T NP_001394909.1:p.Arg640Ser missense NM_001407981.1:c.1920A>T NP_001394910.1:p.Arg640Ser missense NM_001407982.1:c.1920A>T NP_001394911.1:p.Arg640Ser missense NM_001407983.1:c.1920A>T NP_001394912.1:p.Arg640Ser missense NM_001407984.1:c.1920A>T NP_001394913.1:p.Arg640Ser missense NM_001407985.1:c.1920A>T NP_001394914.1:p.Arg640Ser missense NM_001407986.1:c.1920A>T NP_001394915.1:p.Arg640Ser missense NM_001407990.1:c.1920A>T NP_001394919.1:p.Arg640Ser missense NM_001407991.1:c.1920A>T NP_001394920.1:p.Arg640Ser missense NM_001407992.1:c.1920A>T NP_001394921.1:p.Arg640Ser missense NM_001407993.1:c.1920A>T NP_001394922.1:p.Arg640Ser missense NM_001408392.1:c.1917A>T NP_001395321.1:p.Arg639Ser missense NM_001408396.1:c.1917A>T NP_001395325.1:p.Arg639Ser missense NM_001408397.1:c.1917A>T NP_001395326.1:p.Arg639Ser missense NM_001408398.1:c.1917A>T NP_001395327.1:p.Arg639Ser missense NM_001408399.1:c.1917A>T NP_001395328.1:p.Arg639Ser missense NM_001408400.1:c.1917A>T NP_001395329.1:p.Arg639Ser missense NM_001408401.1:c.1917A>T NP_001395330.1:p.Arg639Ser missense NM_001408402.1:c.1917A>T NP_001395331.1:p.Arg639Ser missense NM_001408403.1:c.1917A>T NP_001395332.1:p.Arg639Ser missense NM_001408404.1:c.1917A>T NP_001395333.1:p.Arg639Ser missense NM_001408406.1:c.1914A>T NP_001395335.1:p.Arg638Ser missense NM_001408407.1:c.1914A>T NP_001395336.1:p.Arg638Ser missense NM_001408408.1:c.1914A>T NP_001395337.1:p.Arg638Ser missense NM_001408409.1:c.1911A>T NP_001395338.1:p.Arg637Ser missense NM_001408410.1:c.1848A>T NP_001395339.1:p.Arg616Ser missense NM_001408411.1:c.1845A>T NP_001395340.1:p.Arg615Ser missense NM_001408412.1:c.1842A>T NP_001395341.1:p.Arg614Ser missense NM_001408413.1:c.1842A>T NP_001395342.1:p.Arg614Ser missense NM_001408414.1:c.1842A>T NP_001395343.1:p.Arg614Ser missense NM_001408415.1:c.1842A>T NP_001395344.1:p.Arg614Ser missense NM_001408416.1:c.1842A>T NP_001395345.1:p.Arg614Ser missense NM_001408418.1:c.1806A>T NP_001395347.1:p.Arg602Ser missense NM_001408419.1:c.1806A>T NP_001395348.1:p.Arg602Ser missense NM_001408420.1:c.1806A>T NP_001395349.1:p.Arg602Ser missense NM_001408421.1:c.1803A>T NP_001395350.1:p.Arg601Ser missense NM_001408422.1:c.1803A>T NP_001395351.1:p.Arg601Ser missense NM_001408423.1:c.1803A>T NP_001395352.1:p.Arg601Ser missense NM_001408424.1:c.1803A>T NP_001395353.1:p.Arg601Ser missense NM_001408425.1:c.1800A>T NP_001395354.1:p.Arg600Ser missense NM_001408426.1:c.1800A>T NP_001395355.1:p.Arg600Ser missense NM_001408427.1:c.1800A>T NP_001395356.1:p.Arg600Ser missense NM_001408428.1:c.1800A>T NP_001395357.1:p.Arg600Ser missense NM_001408429.1:c.1800A>T NP_001395358.1:p.Arg600Ser missense NM_001408430.1:c.1800A>T NP_001395359.1:p.Arg600Ser missense NM_001408431.1:c.1800A>T NP_001395360.1:p.Arg600Ser missense NM_001408432.1:c.1797A>T NP_001395361.1:p.Arg599Ser missense NM_001408433.1:c.1797A>T NP_001395362.1:p.Arg599Ser missense NM_001408434.1:c.1797A>T NP_001395363.1:p.Arg599Ser missense NM_001408435.1:c.1797A>T NP_001395364.1:p.Arg599Ser missense NM_001408436.1:c.1797A>T NP_001395365.1:p.Arg599Ser missense NM_001408437.1:c.1797A>T NP_001395366.1:p.Arg599Ser missense NM_001408438.1:c.1797A>T NP_001395367.1:p.Arg599Ser missense NM_001408439.1:c.1797A>T NP_001395368.1:p.Arg599Ser missense NM_001408440.1:c.1797A>T NP_001395369.1:p.Arg599Ser missense NM_001408441.1:c.1797A>T NP_001395370.1:p.Arg599Ser missense NM_001408442.1:c.1797A>T NP_001395371.1:p.Arg599Ser missense NM_001408443.1:c.1797A>T NP_001395372.1:p.Arg599Ser missense NM_001408444.1:c.1797A>T NP_001395373.1:p.Arg599Ser missense NM_001408445.1:c.1794A>T NP_001395374.1:p.Arg598Ser missense NM_001408446.1:c.1794A>T NP_001395375.1:p.Arg598Ser missense NM_001408447.1:c.1794A>T NP_001395376.1:p.Arg598Ser missense NM_001408448.1:c.1794A>T NP_001395377.1:p.Arg598Ser missense NM_001408450.1:c.1794A>T NP_001395379.1:p.Arg598Ser missense NM_001408451.1:c.1788A>T NP_001395380.1:p.Arg596Ser missense NM_001408452.1:c.1782A>T NP_001395381.1:p.Arg594Ser missense NM_001408453.1:c.1782A>T NP_001395382.1:p.Arg594Ser missense NM_001408454.1:c.1782A>T NP_001395383.1:p.Arg594Ser missense NM_001408455.1:c.1782A>T NP_001395384.1:p.Arg594Ser missense NM_001408456.1:c.1782A>T NP_001395385.1:p.Arg594Ser missense NM_001408457.1:c.1782A>T NP_001395386.1:p.Arg594Ser missense NM_001408458.1:c.1779A>T NP_001395387.1:p.Arg593Ser missense NM_001408459.1:c.1779A>T NP_001395388.1:p.Arg593Ser missense NM_001408460.1:c.1779A>T NP_001395389.1:p.Arg593Ser missense NM_001408461.1:c.1779A>T NP_001395390.1:p.Arg593Ser missense NM_001408462.1:c.1779A>T NP_001395391.1:p.Arg593Ser missense NM_001408463.1:c.1779A>T NP_001395392.1:p.Arg593Ser missense NM_001408464.1:c.1779A>T NP_001395393.1:p.Arg593Ser missense NM_001408465.1:c.1779A>T NP_001395394.1:p.Arg593Ser missense NM_001408466.1:c.1779A>T NP_001395395.1:p.Arg593Ser missense NM_001408467.1:c.1779A>T NP_001395396.1:p.Arg593Ser missense NM_001408468.1:c.1776A>T NP_001395397.1:p.Arg592Ser missense NM_001408469.1:c.1776A>T NP_001395398.1:p.Arg592Ser missense NM_001408470.1:c.1776A>T NP_001395399.1:p.Arg592Ser missense NM_001408472.1:c.1920A>T NP_001395401.1:p.Arg640Ser missense NM_001408473.1:c.1917A>T NP_001395402.1:p.Arg639Ser missense NM_001408474.1:c.1722A>T NP_001395403.1:p.Arg574Ser missense NM_001408475.1:c.1719A>T NP_001395404.1:p.Arg573Ser missense NM_001408476.1:c.1719A>T NP_001395405.1:p.Arg573Ser missense NM_001408478.1:c.1713A>T NP_001395407.1:p.Arg571Ser missense NM_001408479.1:c.1713A>T NP_001395408.1:p.Arg571Ser missense NM_001408480.1:c.1713A>T NP_001395409.1:p.Arg571Ser missense NM_001408481.1:c.1710A>T NP_001395410.1:p.Arg570Ser missense NM_001408482.1:c.1710A>T NP_001395411.1:p.Arg570Ser missense NM_001408483.1:c.1710A>T NP_001395412.1:p.Arg570Ser missense NM_001408484.1:c.1710A>T NP_001395413.1:p.Arg570Ser missense NM_001408485.1:c.1710A>T NP_001395414.1:p.Arg570Ser missense NM_001408489.1:c.1710A>T NP_001395418.1:p.Arg570Ser missense NM_001408490.1:c.1710A>T NP_001395419.1:p.Arg570Ser missense NM_001408491.1:c.1710A>T NP_001395420.1:p.Arg570Ser missense NM_001408492.1:c.1707A>T NP_001395421.1:p.Arg569Ser missense NM_001408493.1:c.1707A>T NP_001395422.1:p.Arg569Ser missense NM_001408494.1:c.1683A>T NP_001395423.1:p.Arg561Ser missense NM_001408495.1:c.1677A>T NP_001395424.1:p.Arg559Ser missense NM_001408496.1:c.1659A>T NP_001395425.1:p.Arg553Ser missense NM_001408497.1:c.1659A>T NP_001395426.1:p.Arg553Ser missense NM_001408498.1:c.1659A>T NP_001395427.1:p.Arg553Ser missense NM_001408499.1:c.1659A>T NP_001395428.1:p.Arg553Ser missense NM_001408500.1:c.1659A>T NP_001395429.1:p.Arg553Ser missense NM_001408501.1:c.1659A>T NP_001395430.1:p.Arg553Ser missense NM_001408502.1:c.1656A>T NP_001395431.1:p.Arg552Ser missense NM_001408503.1:c.1656A>T NP_001395432.1:p.Arg552Ser missense NM_001408504.1:c.1656A>T NP_001395433.1:p.Arg552Ser missense NM_001408505.1:c.1653A>T NP_001395434.1:p.Arg551Ser missense NM_001408506.1:c.1596A>T NP_001395435.1:p.Arg532Ser missense NM_001408507.1:c.1593A>T NP_001395436.1:p.Arg531Ser missense NM_001408508.1:c.1584A>T NP_001395437.1:p.Arg528Ser missense NM_001408509.1:c.1581A>T NP_001395438.1:p.Arg527Ser missense NM_001408510.1:c.1542A>T NP_001395439.1:p.Arg514Ser missense NM_001408511.1:c.1539A>T NP_001395440.1:p.Arg513Ser missense NM_001408512.1:c.1419A>T NP_001395441.1:p.Arg473Ser missense NM_001408513.1:c.1392A>T NP_001395442.1:p.Arg464Ser missense NM_001408514.1:c.996A>T NP_001395443.1:p.Arg332Ser missense NM_007297.4:c.5091A>T NP_009228.2:p.Arg1697Ser missense NM_007298.4:c.1920A>T NP_009229.2:p.Arg640Ser missense NM_007299.4:c.1920A>T NP_009230.2:p.Arg640Ser missense NM_007300.4:c.5295A>T NP_009231.2:p.Arg1765Ser missense NM_007304.2:c.1920A>T NP_009235.2:p.Arg640Ser missense NR_027676.2:n.5409A>T non-coding transcript variant NC_000017.11:g.43057097T>A NC_000017.10:g.41209114T>A NG_005905.2:g.160887A>T LRG_292:g.160887A>T LRG_292t1:c.5232A>T LRG_292p1:p.Arg1744Ser - Protein change
- R1765S, R1744S, R1697S, R640S, R1448S, R1575S, R1616S, R1656S, R1673S, R1695S, R1700S, R1717S, R1741S, R464S, R532S, R551S, R553S, R559S, R569S, R573S, R598S, R599S, R601S, R616S, R1590S, R1617S, R1672S, R1696S, R1702S, R1703S, R1716S, R1724S, R1739S, R1743S, R1766S, R528S, R561S, R570S, R602S, R615S, R637S, R639S, R875S, R1447S, R1631S, R1632S, R1655S, R1676S, R1742S, R514S, R594S, R596S, R600S, R614S, R641S, R1615S, R1633S, R1654S, R1674S, R1675S, R1677S, R1701S, R1718S, R1725S, R1740S, R1764S, R332S, R473S, R513S, R527S, R531S, R552S, R571S, R574S, R592S, R593S, R638S, R662S, R663S, R876S
- Other names
- -
- Canonical SPDI
- NC_000017.11:43057096:T:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5232A>T, a MISSENSE variant, produced a function score of -0.12, corresponding to a functional classification of FUNCTIONAL. 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. |
|---|---|---|---|---|
| not provided (1) |
no classification provided
|
- | RCV001076658.3 |
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. |
|
|---|---|---|---|---|---|
|
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: SCV001242447.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.11636936979822
|
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_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001242447.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5232A>T, a MISSENSE variant, produced a function score of -0.12, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5232A>T, a MISSENSE variant, produced a function score of -0.12, corresponding to a functional classification of FUNCTIONAL. 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)
|
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 rs2051514714 ...
HelpRecord 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.