ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile)
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.
Uncertain significance(2); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5425G>A (p.Val1809Ile)
Variation ID: 240822 Accession: VCV000240822.14
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43047685 (GRCh38) [ NCBI UCSC ] 17: 41199702 (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 Jul 1, 2016 May 1, 2024 Feb 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5425G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1809Ile missense NM_001407571.1:c.5212G>A NP_001394500.1:p.Val1738Ile missense NM_001407581.1:c.5491G>A NP_001394510.1:p.Val1831Ile missense NM_001407582.1:c.5491G>A NP_001394511.1:p.Val1831Ile missense NM_001407583.1:c.5488G>A NP_001394512.1:p.Val1830Ile missense NM_001407585.1:c.5488G>A NP_001394514.1:p.Val1830Ile missense NM_001407587.1:c.5488G>A NP_001394516.1:p.Val1830Ile missense NM_001407590.1:c.5485G>A NP_001394519.1:p.Val1829Ile missense NM_001407591.1:c.5485G>A NP_001394520.1:p.Val1829Ile missense NM_001407593.1:c.5425G>A NP_001394522.1:p.Val1809Ile missense NM_001407594.1:c.5425G>A NP_001394523.1:p.Val1809Ile missense NM_001407596.1:c.5425G>A NP_001394525.1:p.Val1809Ile missense NM_001407597.1:c.5425G>A NP_001394526.1:p.Val1809Ile missense NM_001407598.1:c.5425G>A NP_001394527.1:p.Val1809Ile missense NM_001407602.1:c.5425G>A NP_001394531.1:p.Val1809Ile missense NM_001407603.1:c.5425G>A NP_001394532.1:p.Val1809Ile missense NM_001407605.1:c.5425G>A NP_001394534.1:p.Val1809Ile missense NM_001407610.1:c.5422G>A NP_001394539.1:p.Val1808Ile missense NM_001407611.1:c.5422G>A NP_001394540.1:p.Val1808Ile missense NM_001407612.1:c.5422G>A NP_001394541.1:p.Val1808Ile missense NM_001407613.1:c.5422G>A NP_001394542.1:p.Val1808Ile missense NM_001407614.1:c.5422G>A NP_001394543.1:p.Val1808Ile missense NM_001407615.1:c.5422G>A NP_001394544.1:p.Val1808Ile missense NM_001407616.1:c.5422G>A NP_001394545.1:p.Val1808Ile missense NM_001407617.1:c.5422G>A NP_001394546.1:p.Val1808Ile missense NM_001407618.1:c.5422G>A NP_001394547.1:p.Val1808Ile missense NM_001407619.1:c.5422G>A NP_001394548.1:p.Val1808Ile missense NM_001407620.1:c.5422G>A NP_001394549.1:p.Val1808Ile missense NM_001407621.1:c.5422G>A NP_001394550.1:p.Val1808Ile missense NM_001407622.1:c.5422G>A NP_001394551.1:p.Val1808Ile missense NM_001407623.1:c.5422G>A NP_001394552.1:p.Val1808Ile missense NM_001407624.1:c.5422G>A NP_001394553.1:p.Val1808Ile missense NM_001407625.1:c.5422G>A NP_001394554.1:p.Val1808Ile missense NM_001407626.1:c.5422G>A NP_001394555.1:p.Val1808Ile missense NM_001407627.1:c.5419G>A NP_001394556.1:p.Val1807Ile missense NM_001407628.1:c.5419G>A NP_001394557.1:p.Val1807Ile missense NM_001407629.1:c.5419G>A NP_001394558.1:p.Val1807Ile missense NM_001407630.1:c.5419G>A NP_001394559.1:p.Val1807Ile missense NM_001407631.1:c.5419G>A NP_001394560.1:p.Val1807Ile missense NM_001407632.1:c.5419G>A NP_001394561.1:p.Val1807Ile missense NM_001407633.1:c.5419G>A NP_001394562.1:p.Val1807Ile missense NM_001407634.1:c.5419G>A NP_001394563.1:p.Val1807Ile missense NM_001407635.1:c.5419G>A NP_001394564.1:p.Val1807Ile missense NM_001407636.1:c.5419G>A NP_001394565.1:p.Val1807Ile missense NM_001407637.1:c.5419G>A NP_001394566.1:p.Val1807Ile missense NM_001407638.1:c.5419G>A NP_001394567.1:p.Val1807Ile missense NM_001407639.1:c.5419G>A NP_001394568.1:p.Val1807Ile missense NM_001407640.1:c.5419G>A NP_001394569.1:p.Val1807Ile missense NM_001407641.1:c.5419G>A NP_001394570.1:p.Val1807Ile missense NM_001407642.1:c.5419G>A NP_001394571.1:p.Val1807Ile missense NM_001407644.1:c.5416G>A NP_001394573.1:p.Val1806Ile missense NM_001407645.1:c.5416G>A NP_001394574.1:p.Val1806Ile missense NM_001407646.1:c.5413G>A NP_001394575.1:p.Val1805Ile missense NM_001407647.1:c.5410G>A NP_001394576.1:p.Val1804Ile missense NM_001407648.1:c.5368G>A NP_001394577.1:p.Val1790Ile missense NM_001407649.1:c.5365G>A NP_001394578.1:p.Val1789Ile missense NM_001407652.1:c.5347G>A NP_001394581.1:p.Val1783Ile missense NM_001407653.1:c.5347G>A NP_001394582.1:p.Val1783Ile missense NM_001407654.1:c.5347G>A NP_001394583.1:p.Val1783Ile missense NM_001407655.1:c.5347G>A NP_001394584.1:p.Val1783Ile missense NM_001407656.1:c.5344G>A NP_001394585.1:p.Val1782Ile missense NM_001407657.1:c.5344G>A NP_001394586.1:p.Val1782Ile missense NM_001407658.1:c.5344G>A NP_001394587.1:p.Val1782Ile missense NM_001407659.1:c.5341G>A NP_001394588.1:p.Val1781Ile missense NM_001407660.1:c.5341G>A NP_001394589.1:p.Val1781Ile missense NM_001407661.1:c.5341G>A NP_001394590.1:p.Val1781Ile missense NM_001407662.1:c.5341G>A NP_001394591.1:p.Val1781Ile missense NM_001407663.1:c.5341G>A NP_001394592.1:p.Val1781Ile missense NM_001407664.1:c.5302G>A NP_001394593.1:p.Val1768Ile missense NM_001407665.1:c.5302G>A NP_001394594.1:p.Val1768Ile missense NM_001407666.1:c.5302G>A NP_001394595.1:p.Val1768Ile missense NM_001407667.1:c.5302G>A NP_001394596.1:p.Val1768Ile missense NM_001407668.1:c.5302G>A NP_001394597.1:p.Val1768Ile missense NM_001407669.1:c.5302G>A NP_001394598.1:p.Val1768Ile missense NM_001407670.1:c.5299G>A NP_001394599.1:p.Val1767Ile missense NM_001407671.1:c.5299G>A NP_001394600.1:p.Val1767Ile missense NM_001407672.1:c.5299G>A NP_001394601.1:p.Val1767Ile missense NM_001407673.1:c.5299G>A NP_001394602.1:p.Val1767Ile missense NM_001407674.1:c.5299G>A NP_001394603.1:p.Val1767Ile missense NM_001407675.1:c.5299G>A NP_001394604.1:p.Val1767Ile missense NM_001407676.1:c.5299G>A NP_001394605.1:p.Val1767Ile missense NM_001407677.1:c.5299G>A NP_001394606.1:p.Val1767Ile missense NM_001407678.1:c.5299G>A NP_001394607.1:p.Val1767Ile missense NM_001407679.1:c.5299G>A NP_001394608.1:p.Val1767Ile missense NM_001407680.1:c.5299G>A NP_001394609.1:p.Val1767Ile missense NM_001407681.1:c.5296G>A NP_001394610.1:p.Val1766Ile missense NM_001407682.1:c.5296G>A NP_001394611.1:p.Val1766Ile missense NM_001407683.1:c.5296G>A NP_001394612.1:p.Val1766Ile missense NM_001407684.1:c.5296G>A NP_001394613.1:p.Val1766Ile missense NM_001407685.1:c.5296G>A NP_001394614.1:p.Val1766Ile missense NM_001407686.1:c.5296G>A NP_001394615.1:p.Val1766Ile missense NM_001407687.1:c.5296G>A NP_001394616.1:p.Val1766Ile missense NM_001407688.1:c.5296G>A NP_001394617.1:p.Val1766Ile missense NM_001407689.1:c.5296G>A NP_001394618.1:p.Val1766Ile missense NM_001407690.1:c.5293G>A NP_001394619.1:p.Val1765Ile missense NM_001407691.1:c.5293G>A NP_001394620.1:p.Val1765Ile missense NM_001407692.1:c.5284G>A NP_001394621.1:p.Val1762Ile missense NM_001407694.1:c.5284G>A NP_001394623.1:p.Val1762Ile missense NM_001407695.1:c.5284G>A NP_001394624.1:p.Val1762Ile missense NM_001407696.1:c.5284G>A NP_001394625.1:p.Val1762Ile missense NM_001407697.1:c.5284G>A NP_001394626.1:p.Val1762Ile missense NM_001407698.1:c.5284G>A NP_001394627.1:p.Val1762Ile missense NM_001407724.1:c.5284G>A NP_001394653.1:p.Val1762Ile missense NM_001407725.1:c.5284G>A NP_001394654.1:p.Val1762Ile missense NM_001407726.1:c.5284G>A NP_001394655.1:p.Val1762Ile missense NM_001407727.1:c.5284G>A NP_001394656.1:p.Val1762Ile missense NM_001407728.1:c.5284G>A NP_001394657.1:p.Val1762Ile missense NM_001407729.1:c.5284G>A NP_001394658.1:p.Val1762Ile missense NM_001407730.1:c.5284G>A NP_001394659.1:p.Val1762Ile missense NM_001407731.1:c.5284G>A NP_001394660.1:p.Val1762Ile missense NM_001407732.1:c.5281G>A NP_001394661.1:p.Val1761Ile missense NM_001407733.1:c.5281G>A NP_001394662.1:p.Val1761Ile missense NM_001407734.1:c.5281G>A NP_001394663.1:p.Val1761Ile missense NM_001407735.1:c.5281G>A NP_001394664.1:p.Val1761Ile missense NM_001407736.1:c.5281G>A NP_001394665.1:p.Val1761Ile missense NM_001407737.1:c.5281G>A NP_001394666.1:p.Val1761Ile missense NM_001407738.1:c.5281G>A NP_001394667.1:p.Val1761Ile missense NM_001407739.1:c.5281G>A NP_001394668.1:p.Val1761Ile missense NM_001407740.1:c.5281G>A NP_001394669.1:p.Val1761Ile missense NM_001407741.1:c.5281G>A NP_001394670.1:p.Val1761Ile missense NM_001407742.1:c.5281G>A NP_001394671.1:p.Val1761Ile missense NM_001407743.1:c.5281G>A NP_001394672.1:p.Val1761Ile missense NM_001407744.1:c.5281G>A NP_001394673.1:p.Val1761Ile missense NM_001407745.1:c.5281G>A NP_001394674.1:p.Val1761Ile missense NM_001407746.1:c.5281G>A NP_001394675.1:p.Val1761Ile missense NM_001407747.1:c.5281G>A NP_001394676.1:p.Val1761Ile missense NM_001407748.1:c.5281G>A NP_001394677.1:p.Val1761Ile missense NM_001407749.1:c.5281G>A NP_001394678.1:p.Val1761Ile missense NM_001407750.1:c.5281G>A NP_001394679.1:p.Val1761Ile missense NM_001407751.1:c.5281G>A NP_001394680.1:p.Val1761Ile missense NM_001407752.1:c.5281G>A NP_001394681.1:p.Val1761Ile missense NM_001407838.1:c.5278G>A NP_001394767.1:p.Val1760Ile missense NM_001407839.1:c.5278G>A NP_001394768.1:p.Val1760Ile missense NM_001407841.1:c.5278G>A NP_001394770.1:p.Val1760Ile missense NM_001407842.1:c.5278G>A NP_001394771.1:p.Val1760Ile missense NM_001407843.1:c.5278G>A NP_001394772.1:p.Val1760Ile missense NM_001407844.1:c.5278G>A NP_001394773.1:p.Val1760Ile missense NM_001407845.1:c.5278G>A NP_001394774.1:p.Val1760Ile missense NM_001407846.1:c.5278G>A NP_001394775.1:p.Val1760Ile missense NM_001407847.1:c.5278G>A NP_001394776.1:p.Val1760Ile missense NM_001407848.1:c.5278G>A NP_001394777.1:p.Val1760Ile missense NM_001407849.1:c.5278G>A NP_001394778.1:p.Val1760Ile missense NM_001407850.1:c.5278G>A NP_001394779.1:p.Val1760Ile missense NM_001407851.1:c.5278G>A NP_001394780.1:p.Val1760Ile missense NM_001407852.1:c.5278G>A NP_001394781.1:p.Val1760Ile missense NM_001407853.1:c.5278G>A NP_001394782.1:p.Val1760Ile missense NM_001407854.1:c.5351G>A NP_001394783.1:p.Gly1784Asp missense NM_001407858.1:c.5348G>A NP_001394787.1:p.Gly1783Asp missense NM_001407859.1:c.5348G>A NP_001394788.1:p.Gly1783Asp missense NM_001407860.1:c.5348G>A NP_001394789.1:p.Gly1783Asp missense NM_001407861.1:c.5345G>A NP_001394790.1:p.Gly1782Asp missense NM_001407862.1:c.5224G>A NP_001394791.1:p.Val1742Ile missense NM_001407863.1:c.5221G>A NP_001394792.1:p.Val1741Ile missense NM_001407874.1:c.5218G>A NP_001394803.1:p.Val1740Ile missense NM_001407875.1:c.5218G>A NP_001394804.1:p.Val1740Ile missense NM_001407879.1:c.5215G>A NP_001394808.1:p.Val1739Ile missense NM_001407881.1:c.5215G>A NP_001394810.1:p.Val1739Ile missense NM_001407882.1:c.5215G>A NP_001394811.1:p.Val1739Ile missense NM_001407884.1:c.5215G>A NP_001394813.1:p.Val1739Ile missense NM_001407885.1:c.5215G>A NP_001394814.1:p.Val1739Ile missense NM_001407886.1:c.5215G>A NP_001394815.1:p.Val1739Ile missense NM_001407887.1:c.5215G>A NP_001394816.1:p.Val1739Ile missense NM_001407889.1:c.5215G>A NP_001394818.1:p.Val1739Ile missense NM_001407894.1:c.5212G>A NP_001394823.1:p.Val1738Ile missense NM_001407895.1:c.5212G>A NP_001394824.1:p.Val1738Ile missense NM_001407896.1:c.5212G>A NP_001394825.1:p.Val1738Ile missense NM_001407897.1:c.5212G>A NP_001394826.1:p.Val1738Ile missense NM_001407898.1:c.5212G>A NP_001394827.1:p.Val1738Ile missense NM_001407899.1:c.5212G>A NP_001394828.1:p.Val1738Ile missense NM_001407900.1:c.5212G>A NP_001394829.1:p.Val1738Ile missense NM_001407902.1:c.5212G>A NP_001394831.1:p.Val1738Ile missense NM_001407904.1:c.5212G>A NP_001394833.1:p.Val1738Ile missense NM_001407906.1:c.5212G>A NP_001394835.1:p.Val1738Ile missense NM_001407907.1:c.5212G>A NP_001394836.1:p.Val1738Ile missense NM_001407908.1:c.5212G>A NP_001394837.1:p.Val1738Ile missense NM_001407909.1:c.5212G>A NP_001394838.1:p.Val1738Ile missense NM_001407910.1:c.5212G>A NP_001394839.1:p.Val1738Ile missense NM_001407915.1:c.5209G>A NP_001394844.1:p.Val1737Ile missense NM_001407916.1:c.5209G>A NP_001394845.1:p.Val1737Ile missense NM_001407917.1:c.5209G>A NP_001394846.1:p.Val1737Ile missense NM_001407918.1:c.5209G>A NP_001394847.1:p.Val1737Ile missense NM_001407919.1:c.5173G>A NP_001394848.1:p.Val1725Ile missense NM_001407920.1:c.5161G>A NP_001394849.1:p.Val1721Ile missense NM_001407921.1:c.5161G>A NP_001394850.1:p.Val1721Ile missense NM_001407922.1:c.5161G>A NP_001394851.1:p.Val1721Ile missense NM_001407923.1:c.5161G>A NP_001394852.1:p.Val1721Ile missense NM_001407924.1:c.5161G>A NP_001394853.1:p.Val1721Ile missense NM_001407925.1:c.5161G>A NP_001394854.1:p.Val1721Ile missense NM_001407926.1:c.5161G>A NP_001394855.1:p.Val1721Ile missense NM_001407927.1:c.5158G>A NP_001394856.1:p.Val1720Ile missense NM_001407928.1:c.5158G>A NP_001394857.1:p.Val1720Ile missense NM_001407929.1:c.5158G>A NP_001394858.1:p.Val1720Ile missense NM_001407930.1:c.5158G>A NP_001394859.1:p.Val1720Ile missense NM_001407931.1:c.5158G>A NP_001394860.1:p.Val1720Ile missense NM_001407932.1:c.5158G>A NP_001394861.1:p.Val1720Ile missense NM_001407933.1:c.5158G>A NP_001394862.1:p.Val1720Ile missense NM_001407934.1:c.5155G>A NP_001394863.1:p.Val1719Ile missense NM_001407935.1:c.5155G>A NP_001394864.1:p.Val1719Ile missense NM_001407936.1:c.5155G>A NP_001394865.1:p.Val1719Ile missense NM_001407937.1:c.5228G>A NP_001394866.1:p.Gly1743Asp missense NM_001407938.1:c.5228G>A NP_001394867.1:p.Gly1743Asp missense NM_001407939.1:c.5225G>A NP_001394868.1:p.Gly1742Asp missense NM_001407940.1:c.5225G>A NP_001394869.1:p.Gly1742Asp missense NM_001407941.1:c.5222G>A NP_001394870.1:p.Gly1741Asp missense NM_001407942.1:c.5210G>A NP_001394871.1:p.Gly1737Asp missense NM_001407943.1:c.5207G>A NP_001394872.1:p.Gly1736Asp missense NM_001407944.1:c.5207G>A NP_001394873.1:p.Gly1736Asp missense NM_001407945.1:c.5207G>A NP_001394874.1:p.Gly1736Asp missense NM_001407946.1:c.5092G>A NP_001394875.1:p.Val1698Ile missense NM_001407947.1:c.5092G>A NP_001394876.1:p.Val1698Ile missense NM_001407948.1:c.5092G>A NP_001394877.1:p.Val1698Ile missense NM_001407949.1:c.5092G>A NP_001394878.1:p.Val1698Ile missense NM_001407950.1:c.5089G>A NP_001394879.1:p.Val1697Ile missense NM_001407951.1:c.5089G>A NP_001394880.1:p.Val1697Ile missense NM_001407952.1:c.5089G>A NP_001394881.1:p.Val1697Ile missense NM_001407953.1:c.5089G>A NP_001394882.1:p.Val1697Ile missense NM_001407954.1:c.5089G>A NP_001394883.1:p.Val1697Ile missense NM_001407955.1:c.5089G>A NP_001394884.1:p.Val1697Ile missense NM_001407956.1:c.5086G>A NP_001394885.1:p.Val1696Ile missense NM_001407957.1:c.5086G>A NP_001394886.1:p.Val1696Ile missense NM_001407958.1:c.5086G>A NP_001394887.1:p.Val1696Ile missense NM_001407959.1:c.5044G>A NP_001394888.1:p.Val1682Ile missense NM_001407960.1:c.5041G>A NP_001394889.1:p.Val1681Ile missense NM_001407962.1:c.5041G>A NP_001394891.1:p.Val1681Ile missense NM_001407963.1:c.5038G>A NP_001394892.1:p.Val1680Ile missense NM_001407964.1:c.4963G>A NP_001394893.1:p.Val1655Ile missense NM_001407965.1:c.4918G>A NP_001394894.1:p.Val1640Ile missense NM_001407966.1:c.4537G>A NP_001394895.1:p.Val1513Ile missense NM_001407967.1:c.4534G>A NP_001394896.1:p.Val1512Ile missense NM_001407968.1:c.2821G>A NP_001394897.1:p.Val941Ile missense NM_001407969.1:c.2818G>A NP_001394898.1:p.Val940Ile missense NM_001407970.1:c.2182G>A NP_001394899.1:p.Val728Ile missense NM_001407971.1:c.2182G>A NP_001394900.1:p.Val728Ile missense NM_001407972.1:c.2179G>A NP_001394901.1:p.Val727Ile missense NM_001407973.1:c.2116G>A NP_001394902.1:p.Val706Ile missense NM_001407974.1:c.2116G>A NP_001394903.1:p.Val706Ile missense NM_001407975.1:c.2116G>A NP_001394904.1:p.Val706Ile missense NM_001407976.1:c.2116G>A NP_001394905.1:p.Val706Ile missense NM_001407977.1:c.2116G>A NP_001394906.1:p.Val706Ile missense NM_001407978.1:c.2116G>A NP_001394907.1:p.Val706Ile missense NM_001407979.1:c.2113G>A NP_001394908.1:p.Val705Ile missense NM_001407980.1:c.2113G>A NP_001394909.1:p.Val705Ile missense NM_001407981.1:c.2113G>A NP_001394910.1:p.Val705Ile missense NM_001407982.1:c.2113G>A NP_001394911.1:p.Val705Ile missense NM_001407983.1:c.2113G>A NP_001394912.1:p.Val705Ile missense NM_001407984.1:c.2113G>A NP_001394913.1:p.Val705Ile missense NM_001407985.1:c.2113G>A NP_001394914.1:p.Val705Ile missense NM_001407986.1:c.2113G>A NP_001394915.1:p.Val705Ile missense NM_001407990.1:c.2113G>A NP_001394919.1:p.Val705Ile missense NM_001407991.1:c.2113G>A NP_001394920.1:p.Val705Ile missense NM_001407992.1:c.2113G>A NP_001394921.1:p.Val705Ile missense NM_001407993.1:c.2113G>A NP_001394922.1:p.Val705Ile missense NM_001408392.1:c.2110G>A NP_001395321.1:p.Val704Ile missense NM_001408396.1:c.2110G>A NP_001395325.1:p.Val704Ile missense NM_001408397.1:c.2110G>A NP_001395326.1:p.Val704Ile missense NM_001408398.1:c.2110G>A NP_001395327.1:p.Val704Ile missense NM_001408399.1:c.2110G>A NP_001395328.1:p.Val704Ile missense NM_001408400.1:c.2110G>A NP_001395329.1:p.Val704Ile missense NM_001408401.1:c.2110G>A NP_001395330.1:p.Val704Ile missense NM_001408402.1:c.2110G>A NP_001395331.1:p.Val704Ile missense NM_001408403.1:c.2110G>A NP_001395332.1:p.Val704Ile missense NM_001408404.1:c.2110G>A NP_001395333.1:p.Val704Ile missense NM_001408406.1:c.2107G>A NP_001395335.1:p.Val703Ile missense NM_001408407.1:c.2107G>A NP_001395336.1:p.Val703Ile missense NM_001408408.1:c.2107G>A NP_001395337.1:p.Val703Ile missense NM_001408409.1:c.2104G>A NP_001395338.1:p.Val702Ile missense NM_001408410.1:c.2041G>A NP_001395339.1:p.Val681Ile missense NM_001408411.1:c.2038G>A NP_001395340.1:p.Val680Ile missense NM_001408412.1:c.2035G>A NP_001395341.1:p.Val679Ile missense NM_001408413.1:c.2035G>A NP_001395342.1:p.Val679Ile missense NM_001408414.1:c.2035G>A NP_001395343.1:p.Val679Ile missense NM_001408415.1:c.2035G>A NP_001395344.1:p.Val679Ile missense NM_001408416.1:c.2035G>A NP_001395345.1:p.Val679Ile missense NM_001408418.1:c.1999G>A NP_001395347.1:p.Val667Ile missense NM_001408419.1:c.1999G>A NP_001395348.1:p.Val667Ile missense NM_001408420.1:c.1999G>A NP_001395349.1:p.Val667Ile missense NM_001408421.1:c.1996G>A NP_001395350.1:p.Val666Ile missense NM_001408422.1:c.1996G>A NP_001395351.1:p.Val666Ile missense NM_001408423.1:c.1996G>A NP_001395352.1:p.Val666Ile missense NM_001408424.1:c.1996G>A NP_001395353.1:p.Val666Ile missense NM_001408425.1:c.1993G>A NP_001395354.1:p.Val665Ile missense NM_001408426.1:c.1993G>A NP_001395355.1:p.Val665Ile missense NM_001408427.1:c.1993G>A NP_001395356.1:p.Val665Ile missense NM_001408428.1:c.1993G>A NP_001395357.1:p.Val665Ile missense NM_001408429.1:c.1993G>A NP_001395358.1:p.Val665Ile missense NM_001408430.1:c.1993G>A NP_001395359.1:p.Val665Ile missense NM_001408431.1:c.1993G>A NP_001395360.1:p.Val665Ile missense NM_001408432.1:c.1990G>A NP_001395361.1:p.Val664Ile missense NM_001408433.1:c.1990G>A NP_001395362.1:p.Val664Ile missense NM_001408434.1:c.1990G>A NP_001395363.1:p.Val664Ile missense NM_001408435.1:c.1990G>A NP_001395364.1:p.Val664Ile missense NM_001408436.1:c.1990G>A NP_001395365.1:p.Val664Ile missense NM_001408437.1:c.1990G>A NP_001395366.1:p.Val664Ile missense NM_001408438.1:c.1990G>A NP_001395367.1:p.Val664Ile missense NM_001408439.1:c.1990G>A NP_001395368.1:p.Val664Ile missense NM_001408440.1:c.1990G>A NP_001395369.1:p.Val664Ile missense NM_001408441.1:c.1990G>A NP_001395370.1:p.Val664Ile missense NM_001408442.1:c.1990G>A NP_001395371.1:p.Val664Ile missense NM_001408443.1:c.1990G>A NP_001395372.1:p.Val664Ile missense NM_001408444.1:c.1990G>A NP_001395373.1:p.Val664Ile missense NM_001408445.1:c.1987G>A NP_001395374.1:p.Val663Ile missense NM_001408446.1:c.1987G>A NP_001395375.1:p.Val663Ile missense NM_001408447.1:c.1987G>A NP_001395376.1:p.Val663Ile missense NM_001408448.1:c.1987G>A NP_001395377.1:p.Val663Ile missense NM_001408450.1:c.1987G>A NP_001395379.1:p.Val663Ile missense NM_001408451.1:c.1981G>A NP_001395380.1:p.Val661Ile missense NM_001408452.1:c.1975G>A NP_001395381.1:p.Val659Ile missense NM_001408453.1:c.1975G>A NP_001395382.1:p.Val659Ile missense NM_001408454.1:c.1975G>A NP_001395383.1:p.Val659Ile missense NM_001408455.1:c.1975G>A NP_001395384.1:p.Val659Ile missense NM_001408456.1:c.1975G>A NP_001395385.1:p.Val659Ile missense NM_001408457.1:c.1975G>A NP_001395386.1:p.Val659Ile missense NM_001408458.1:c.1972G>A NP_001395387.1:p.Val658Ile missense NM_001408459.1:c.1972G>A NP_001395388.1:p.Val658Ile missense NM_001408460.1:c.1972G>A NP_001395389.1:p.Val658Ile missense NM_001408461.1:c.1972G>A NP_001395390.1:p.Val658Ile missense NM_001408462.1:c.1972G>A NP_001395391.1:p.Val658Ile missense NM_001408463.1:c.1972G>A NP_001395392.1:p.Val658Ile missense NM_001408464.1:c.1972G>A NP_001395393.1:p.Val658Ile missense NM_001408465.1:c.1972G>A NP_001395394.1:p.Val658Ile missense NM_001408466.1:c.1972G>A NP_001395395.1:p.Val658Ile missense NM_001408467.1:c.1972G>A NP_001395396.1:p.Val658Ile missense NM_001408468.1:c.1969G>A NP_001395397.1:p.Val657Ile missense NM_001408469.1:c.1969G>A NP_001395398.1:p.Val657Ile missense NM_001408470.1:c.1969G>A NP_001395399.1:p.Val657Ile missense NM_001408472.1:c.2039G>A NP_001395401.1:p.Gly680Asp missense NM_001408473.1:c.2036G>A NP_001395402.1:p.Gly679Asp missense NM_001408474.1:c.1915G>A NP_001395403.1:p.Val639Ile missense NM_001408475.1:c.1912G>A NP_001395404.1:p.Val638Ile missense NM_001408476.1:c.1912G>A NP_001395405.1:p.Val638Ile missense NM_001408478.1:c.1906G>A NP_001395407.1:p.Val636Ile missense NM_001408479.1:c.1906G>A NP_001395408.1:p.Val636Ile missense NM_001408480.1:c.1906G>A NP_001395409.1:p.Val636Ile missense NM_001408481.1:c.1903G>A NP_001395410.1:p.Val635Ile missense NM_001408482.1:c.1903G>A NP_001395411.1:p.Val635Ile missense NM_001408483.1:c.1903G>A NP_001395412.1:p.Val635Ile missense NM_001408484.1:c.1903G>A NP_001395413.1:p.Val635Ile missense NM_001408485.1:c.1903G>A NP_001395414.1:p.Val635Ile missense NM_001408489.1:c.1903G>A NP_001395418.1:p.Val635Ile missense NM_001408490.1:c.1903G>A NP_001395419.1:p.Val635Ile missense NM_001408491.1:c.1903G>A NP_001395420.1:p.Val635Ile missense NM_001408492.1:c.1900G>A NP_001395421.1:p.Val634Ile missense NM_001408493.1:c.1900G>A NP_001395422.1:p.Val634Ile missense NM_001408494.1:c.1876G>A NP_001395423.1:p.Val626Ile missense NM_001408495.1:c.1870G>A NP_001395424.1:p.Val624Ile missense NM_001408496.1:c.1852G>A NP_001395425.1:p.Val618Ile missense NM_001408497.1:c.1852G>A NP_001395426.1:p.Val618Ile missense NM_001408498.1:c.1852G>A NP_001395427.1:p.Val618Ile missense NM_001408499.1:c.1852G>A NP_001395428.1:p.Val618Ile missense NM_001408500.1:c.1852G>A NP_001395429.1:p.Val618Ile missense NM_001408501.1:c.1852G>A NP_001395430.1:p.Val618Ile missense NM_001408502.1:c.1849G>A NP_001395431.1:p.Val617Ile missense NM_001408503.1:c.1849G>A NP_001395432.1:p.Val617Ile missense NM_001408504.1:c.1849G>A NP_001395433.1:p.Val617Ile missense NM_001408505.1:c.1846G>A NP_001395434.1:p.Val616Ile missense NM_001408506.1:c.1789G>A NP_001395435.1:p.Val597Ile missense NM_001408507.1:c.1786G>A NP_001395436.1:p.Val596Ile missense NM_001408508.1:c.1777G>A NP_001395437.1:p.Val593Ile missense NM_001408509.1:c.1774G>A NP_001395438.1:p.Val592Ile missense NM_001408510.1:c.1735G>A NP_001395439.1:p.Val579Ile missense NM_001408511.1:c.1732G>A NP_001395440.1:p.Val578Ile missense NM_001408512.1:c.1612G>A NP_001395441.1:p.Val538Ile missense NM_001408513.1:c.1585G>A NP_001395442.1:p.Val529Ile missense NM_001408514.1:c.1189G>A NP_001395443.1:p.Val397Ile missense NM_007297.4:c.5284G>A NP_009228.2:p.Val1762Ile missense NM_007298.4:c.2113G>A NP_009229.2:p.Val705Ile missense NM_007299.4:c.2039G>A NP_009230.2:p.Gly680Asp missense NM_007300.4:c.5488G>A NP_009231.2:p.Val1830Ile missense NM_007304.2:c.2113G>A NP_009235.2:p.Val705Ile missense NR_027676.2:n.5602G>A non-coding transcript variant NC_000017.11:g.43047685C>T NC_000017.10:g.41199702C>T NG_005905.2:g.170299G>A LRG_292:g.170299G>A LRG_292t1:c.5425G>A LRG_292p1:p.Val1809Ile - Protein change
- V1809I, V705I, V1830I, G680D, V1762I, G1736D, G1737D, V1513I, V1640I, V1682I, V1725I, V1739I, V1760I, V1761I, V1804I, V1807I, V1831I, V538I, V592I, V616I, V639I, V657I, V663I, V666I, V680I, V703I, V706I, V940I, V941I, G1742D, G1783D, G679D, V1680I, V1697I, V1719I, V1721I, V1738I, V1741I, V1766I, V1767I, V1768I, V1782I, V1790I, V1805I, V1806I, V397I, V529I, V596I, V597I, V617I, V634I, V635I, V658I, V659I, V664I, V681I, G1743D, G1784D, V1696I, V1720I, V1737I, V1765I, V1783I, V1808I, V1829I, V593I, V624I, V626I, V636I, V638I, V665I, V667I, V679I, V702I, V727I, V728I, G1741D, G1782D, V1512I, V1655I, V1681I, V1698I, V1740I, V1742I, V1781I, V1789I, V578I, V579I, V618I, V661I, V704I
- Other names
- -
- Canonical SPDI
- NC_000017.11:43047684:C:T
-
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.5425G>A, a MISSENSE variant, produced a function score of -0.22, 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.
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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. |
|||
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
|
Dec 17, 2021 | RCV000230445.10 | |
Uncertain significance (2) |
criteria provided, single submitter
|
Feb 15, 2023 | RCV001072911.4 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 25, 2022 | RCV002347900.2 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Dec 17, 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: SCV000289828.7
First in ClinVar: Jul 01, 2016 Last updated: Feb 07, 2023 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1809 of the BRCA1 protein (p.Val1809Ile). … (more)
This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1809 of the BRCA1 protein (p.Val1809Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 240822). 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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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. (less)
|
|
Uncertain significance
(Feb 15, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216833.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Likely benign
(Apr 25, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002652893.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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not provided
(-)
|
no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001238373.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.216144901410392
|
Germline Functional Evidence
Functional
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The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
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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
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A brief description of the result of this method for this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_normal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001238373.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5425G>A, a MISSENSE variant, produced a function score of -0.22, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5425G>A, a MISSENSE variant, produced a function score of -0.22, 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)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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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 rs28897698 ...
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.