ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)
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(4); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5422G>T (p.Val1808Leu)
Variation ID: 489731 Accession: VCV000489731.18
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43047688 (GRCh38) [ NCBI UCSC ] 17: 41199705 (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 Feb 19, 2018 May 1, 2024 Dec 13, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5422G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1808Leu missense NM_001407571.1:c.5209G>T NP_001394500.1:p.Val1737Leu missense NM_001407581.1:c.5488G>T NP_001394510.1:p.Val1830Leu missense NM_001407582.1:c.5488G>T NP_001394511.1:p.Val1830Leu missense NM_001407583.1:c.5485G>T NP_001394512.1:p.Val1829Leu missense NM_001407585.1:c.5485G>T NP_001394514.1:p.Val1829Leu missense NM_001407587.1:c.5485G>T NP_001394516.1:p.Val1829Leu missense NM_001407590.1:c.5482G>T NP_001394519.1:p.Val1828Leu missense NM_001407591.1:c.5482G>T NP_001394520.1:p.Val1828Leu missense NM_001407593.1:c.5422G>T NP_001394522.1:p.Val1808Leu missense NM_001407594.1:c.5422G>T NP_001394523.1:p.Val1808Leu missense NM_001407596.1:c.5422G>T NP_001394525.1:p.Val1808Leu missense NM_001407597.1:c.5422G>T NP_001394526.1:p.Val1808Leu missense NM_001407598.1:c.5422G>T NP_001394527.1:p.Val1808Leu missense NM_001407602.1:c.5422G>T NP_001394531.1:p.Val1808Leu missense NM_001407603.1:c.5422G>T NP_001394532.1:p.Val1808Leu missense NM_001407605.1:c.5422G>T NP_001394534.1:p.Val1808Leu missense NM_001407610.1:c.5419G>T NP_001394539.1:p.Val1807Leu missense NM_001407611.1:c.5419G>T NP_001394540.1:p.Val1807Leu missense NM_001407612.1:c.5419G>T NP_001394541.1:p.Val1807Leu missense NM_001407613.1:c.5419G>T NP_001394542.1:p.Val1807Leu missense NM_001407614.1:c.5419G>T NP_001394543.1:p.Val1807Leu missense NM_001407615.1:c.5419G>T NP_001394544.1:p.Val1807Leu missense NM_001407616.1:c.5419G>T NP_001394545.1:p.Val1807Leu missense NM_001407617.1:c.5419G>T NP_001394546.1:p.Val1807Leu missense NM_001407618.1:c.5419G>T NP_001394547.1:p.Val1807Leu missense NM_001407619.1:c.5419G>T NP_001394548.1:p.Val1807Leu missense NM_001407620.1:c.5419G>T NP_001394549.1:p.Val1807Leu missense NM_001407621.1:c.5419G>T NP_001394550.1:p.Val1807Leu missense NM_001407622.1:c.5419G>T NP_001394551.1:p.Val1807Leu missense NM_001407623.1:c.5419G>T NP_001394552.1:p.Val1807Leu missense NM_001407624.1:c.5419G>T NP_001394553.1:p.Val1807Leu missense NM_001407625.1:c.5419G>T NP_001394554.1:p.Val1807Leu missense NM_001407626.1:c.5419G>T NP_001394555.1:p.Val1807Leu missense NM_001407627.1:c.5416G>T NP_001394556.1:p.Val1806Leu missense NM_001407628.1:c.5416G>T NP_001394557.1:p.Val1806Leu missense NM_001407629.1:c.5416G>T NP_001394558.1:p.Val1806Leu missense NM_001407630.1:c.5416G>T NP_001394559.1:p.Val1806Leu missense NM_001407631.1:c.5416G>T NP_001394560.1:p.Val1806Leu missense NM_001407632.1:c.5416G>T NP_001394561.1:p.Val1806Leu missense NM_001407633.1:c.5416G>T NP_001394562.1:p.Val1806Leu missense NM_001407634.1:c.5416G>T NP_001394563.1:p.Val1806Leu missense NM_001407635.1:c.5416G>T NP_001394564.1:p.Val1806Leu missense NM_001407636.1:c.5416G>T NP_001394565.1:p.Val1806Leu missense NM_001407637.1:c.5416G>T NP_001394566.1:p.Val1806Leu missense NM_001407638.1:c.5416G>T NP_001394567.1:p.Val1806Leu missense NM_001407639.1:c.5416G>T NP_001394568.1:p.Val1806Leu missense NM_001407640.1:c.5416G>T NP_001394569.1:p.Val1806Leu missense NM_001407641.1:c.5416G>T NP_001394570.1:p.Val1806Leu missense NM_001407642.1:c.5416G>T NP_001394571.1:p.Val1806Leu missense NM_001407644.1:c.5413G>T NP_001394573.1:p.Val1805Leu missense NM_001407645.1:c.5413G>T NP_001394574.1:p.Val1805Leu missense NM_001407646.1:c.5410G>T NP_001394575.1:p.Val1804Leu missense NM_001407647.1:c.5407G>T NP_001394576.1:p.Val1803Leu missense NM_001407648.1:c.5365G>T NP_001394577.1:p.Val1789Leu missense NM_001407649.1:c.5362G>T NP_001394578.1:p.Val1788Leu missense NM_001407652.1:c.5344G>T NP_001394581.1:p.Val1782Leu missense NM_001407653.1:c.5344G>T NP_001394582.1:p.Val1782Leu missense NM_001407654.1:c.5344G>T NP_001394583.1:p.Val1782Leu missense NM_001407655.1:c.5344G>T NP_001394584.1:p.Val1782Leu missense NM_001407656.1:c.5341G>T NP_001394585.1:p.Val1781Leu missense NM_001407657.1:c.5341G>T NP_001394586.1:p.Val1781Leu missense NM_001407658.1:c.5341G>T NP_001394587.1:p.Val1781Leu missense NM_001407659.1:c.5338G>T NP_001394588.1:p.Val1780Leu missense NM_001407660.1:c.5338G>T NP_001394589.1:p.Val1780Leu missense NM_001407661.1:c.5338G>T NP_001394590.1:p.Val1780Leu missense NM_001407662.1:c.5338G>T NP_001394591.1:p.Val1780Leu missense NM_001407663.1:c.5338G>T NP_001394592.1:p.Val1780Leu missense NM_001407664.1:c.5299G>T NP_001394593.1:p.Val1767Leu missense NM_001407665.1:c.5299G>T NP_001394594.1:p.Val1767Leu missense NM_001407666.1:c.5299G>T NP_001394595.1:p.Val1767Leu missense NM_001407667.1:c.5299G>T NP_001394596.1:p.Val1767Leu missense NM_001407668.1:c.5299G>T NP_001394597.1:p.Val1767Leu missense NM_001407669.1:c.5299G>T NP_001394598.1:p.Val1767Leu missense NM_001407670.1:c.5296G>T NP_001394599.1:p.Val1766Leu missense NM_001407671.1:c.5296G>T NP_001394600.1:p.Val1766Leu missense NM_001407672.1:c.5296G>T NP_001394601.1:p.Val1766Leu missense NM_001407673.1:c.5296G>T NP_001394602.1:p.Val1766Leu missense NM_001407674.1:c.5296G>T NP_001394603.1:p.Val1766Leu missense NM_001407675.1:c.5296G>T NP_001394604.1:p.Val1766Leu missense NM_001407676.1:c.5296G>T NP_001394605.1:p.Val1766Leu missense NM_001407677.1:c.5296G>T NP_001394606.1:p.Val1766Leu missense NM_001407678.1:c.5296G>T NP_001394607.1:p.Val1766Leu missense NM_001407679.1:c.5296G>T NP_001394608.1:p.Val1766Leu missense NM_001407680.1:c.5296G>T NP_001394609.1:p.Val1766Leu missense NM_001407681.1:c.5293G>T NP_001394610.1:p.Val1765Leu missense NM_001407682.1:c.5293G>T NP_001394611.1:p.Val1765Leu missense NM_001407683.1:c.5293G>T NP_001394612.1:p.Val1765Leu missense NM_001407684.1:c.5293G>T NP_001394613.1:p.Val1765Leu missense NM_001407685.1:c.5293G>T NP_001394614.1:p.Val1765Leu missense NM_001407686.1:c.5293G>T NP_001394615.1:p.Val1765Leu missense NM_001407687.1:c.5293G>T NP_001394616.1:p.Val1765Leu missense NM_001407688.1:c.5293G>T NP_001394617.1:p.Val1765Leu missense NM_001407689.1:c.5293G>T NP_001394618.1:p.Val1765Leu missense NM_001407690.1:c.5290G>T NP_001394619.1:p.Val1764Leu missense NM_001407691.1:c.5290G>T NP_001394620.1:p.Val1764Leu missense NM_001407692.1:c.5281G>T NP_001394621.1:p.Val1761Leu missense NM_001407694.1:c.5281G>T NP_001394623.1:p.Val1761Leu missense NM_001407695.1:c.5281G>T NP_001394624.1:p.Val1761Leu missense NM_001407696.1:c.5281G>T NP_001394625.1:p.Val1761Leu missense NM_001407697.1:c.5281G>T NP_001394626.1:p.Val1761Leu missense NM_001407698.1:c.5281G>T NP_001394627.1:p.Val1761Leu missense NM_001407724.1:c.5281G>T NP_001394653.1:p.Val1761Leu missense NM_001407725.1:c.5281G>T NP_001394654.1:p.Val1761Leu missense NM_001407726.1:c.5281G>T NP_001394655.1:p.Val1761Leu missense NM_001407727.1:c.5281G>T NP_001394656.1:p.Val1761Leu missense NM_001407728.1:c.5281G>T NP_001394657.1:p.Val1761Leu missense NM_001407729.1:c.5281G>T NP_001394658.1:p.Val1761Leu missense NM_001407730.1:c.5281G>T NP_001394659.1:p.Val1761Leu missense NM_001407731.1:c.5281G>T NP_001394660.1:p.Val1761Leu missense NM_001407732.1:c.5278G>T NP_001394661.1:p.Val1760Leu missense NM_001407733.1:c.5278G>T NP_001394662.1:p.Val1760Leu missense NM_001407734.1:c.5278G>T NP_001394663.1:p.Val1760Leu missense NM_001407735.1:c.5278G>T NP_001394664.1:p.Val1760Leu missense NM_001407736.1:c.5278G>T NP_001394665.1:p.Val1760Leu missense NM_001407737.1:c.5278G>T NP_001394666.1:p.Val1760Leu missense NM_001407738.1:c.5278G>T NP_001394667.1:p.Val1760Leu missense NM_001407739.1:c.5278G>T NP_001394668.1:p.Val1760Leu missense NM_001407740.1:c.5278G>T NP_001394669.1:p.Val1760Leu missense NM_001407741.1:c.5278G>T NP_001394670.1:p.Val1760Leu missense NM_001407742.1:c.5278G>T NP_001394671.1:p.Val1760Leu missense NM_001407743.1:c.5278G>T NP_001394672.1:p.Val1760Leu missense NM_001407744.1:c.5278G>T NP_001394673.1:p.Val1760Leu missense NM_001407745.1:c.5278G>T NP_001394674.1:p.Val1760Leu missense NM_001407746.1:c.5278G>T NP_001394675.1:p.Val1760Leu missense NM_001407747.1:c.5278G>T NP_001394676.1:p.Val1760Leu missense NM_001407748.1:c.5278G>T NP_001394677.1:p.Val1760Leu missense NM_001407749.1:c.5278G>T NP_001394678.1:p.Val1760Leu missense NM_001407750.1:c.5278G>T NP_001394679.1:p.Val1760Leu missense NM_001407751.1:c.5278G>T NP_001394680.1:p.Val1760Leu missense NM_001407752.1:c.5278G>T NP_001394681.1:p.Val1760Leu missense NM_001407838.1:c.5275G>T NP_001394767.1:p.Val1759Leu missense NM_001407839.1:c.5275G>T NP_001394768.1:p.Val1759Leu missense NM_001407841.1:c.5275G>T NP_001394770.1:p.Val1759Leu missense NM_001407842.1:c.5275G>T NP_001394771.1:p.Val1759Leu missense NM_001407843.1:c.5275G>T NP_001394772.1:p.Val1759Leu missense NM_001407844.1:c.5275G>T NP_001394773.1:p.Val1759Leu missense NM_001407845.1:c.5275G>T NP_001394774.1:p.Val1759Leu missense NM_001407846.1:c.5275G>T NP_001394775.1:p.Val1759Leu missense NM_001407847.1:c.5275G>T NP_001394776.1:p.Val1759Leu missense NM_001407848.1:c.5275G>T NP_001394777.1:p.Val1759Leu missense NM_001407849.1:c.5275G>T NP_001394778.1:p.Val1759Leu missense NM_001407850.1:c.5275G>T NP_001394779.1:p.Val1759Leu missense NM_001407851.1:c.5275G>T NP_001394780.1:p.Val1759Leu missense NM_001407852.1:c.5275G>T NP_001394781.1:p.Val1759Leu missense NM_001407853.1:c.5275G>T NP_001394782.1:p.Val1759Leu missense NM_001407854.1:c.5348G>T NP_001394783.1:p.Cys1783Phe missense NM_001407858.1:c.5345G>T NP_001394787.1:p.Cys1782Phe missense NM_001407859.1:c.5345G>T NP_001394788.1:p.Cys1782Phe missense NM_001407860.1:c.5345G>T NP_001394789.1:p.Cys1782Phe missense NM_001407861.1:c.5342G>T NP_001394790.1:p.Cys1781Phe missense NM_001407862.1:c.5221G>T NP_001394791.1:p.Val1741Leu missense NM_001407863.1:c.5218G>T NP_001394792.1:p.Val1740Leu missense NM_001407874.1:c.5215G>T NP_001394803.1:p.Val1739Leu missense NM_001407875.1:c.5215G>T NP_001394804.1:p.Val1739Leu missense NM_001407879.1:c.5212G>T NP_001394808.1:p.Val1738Leu missense NM_001407881.1:c.5212G>T NP_001394810.1:p.Val1738Leu missense NM_001407882.1:c.5212G>T NP_001394811.1:p.Val1738Leu missense NM_001407884.1:c.5212G>T NP_001394813.1:p.Val1738Leu missense NM_001407885.1:c.5212G>T NP_001394814.1:p.Val1738Leu missense NM_001407886.1:c.5212G>T NP_001394815.1:p.Val1738Leu missense NM_001407887.1:c.5212G>T NP_001394816.1:p.Val1738Leu missense NM_001407889.1:c.5212G>T NP_001394818.1:p.Val1738Leu missense NM_001407894.1:c.5209G>T NP_001394823.1:p.Val1737Leu missense NM_001407895.1:c.5209G>T NP_001394824.1:p.Val1737Leu missense NM_001407896.1:c.5209G>T NP_001394825.1:p.Val1737Leu missense NM_001407897.1:c.5209G>T NP_001394826.1:p.Val1737Leu missense NM_001407898.1:c.5209G>T NP_001394827.1:p.Val1737Leu missense NM_001407899.1:c.5209G>T NP_001394828.1:p.Val1737Leu missense NM_001407900.1:c.5209G>T NP_001394829.1:p.Val1737Leu missense NM_001407902.1:c.5209G>T NP_001394831.1:p.Val1737Leu missense NM_001407904.1:c.5209G>T NP_001394833.1:p.Val1737Leu missense NM_001407906.1:c.5209G>T NP_001394835.1:p.Val1737Leu missense NM_001407907.1:c.5209G>T NP_001394836.1:p.Val1737Leu missense NM_001407908.1:c.5209G>T NP_001394837.1:p.Val1737Leu missense NM_001407909.1:c.5209G>T NP_001394838.1:p.Val1737Leu missense NM_001407910.1:c.5209G>T NP_001394839.1:p.Val1737Leu missense NM_001407915.1:c.5206G>T NP_001394844.1:p.Val1736Leu missense NM_001407916.1:c.5206G>T NP_001394845.1:p.Val1736Leu missense NM_001407917.1:c.5206G>T NP_001394846.1:p.Val1736Leu missense NM_001407918.1:c.5206G>T NP_001394847.1:p.Val1736Leu missense NM_001407919.1:c.5170G>T NP_001394848.1:p.Val1724Leu missense NM_001407920.1:c.5158G>T NP_001394849.1:p.Val1720Leu missense NM_001407921.1:c.5158G>T NP_001394850.1:p.Val1720Leu missense NM_001407922.1:c.5158G>T NP_001394851.1:p.Val1720Leu missense NM_001407923.1:c.5158G>T NP_001394852.1:p.Val1720Leu missense NM_001407924.1:c.5158G>T NP_001394853.1:p.Val1720Leu missense NM_001407925.1:c.5158G>T NP_001394854.1:p.Val1720Leu missense NM_001407926.1:c.5158G>T NP_001394855.1:p.Val1720Leu missense NM_001407927.1:c.5155G>T NP_001394856.1:p.Val1719Leu missense NM_001407928.1:c.5155G>T NP_001394857.1:p.Val1719Leu missense NM_001407929.1:c.5155G>T NP_001394858.1:p.Val1719Leu missense NM_001407930.1:c.5155G>T NP_001394859.1:p.Val1719Leu missense NM_001407931.1:c.5155G>T NP_001394860.1:p.Val1719Leu missense NM_001407932.1:c.5155G>T NP_001394861.1:p.Val1719Leu missense NM_001407933.1:c.5155G>T NP_001394862.1:p.Val1719Leu missense NM_001407934.1:c.5152G>T NP_001394863.1:p.Val1718Leu missense NM_001407935.1:c.5152G>T NP_001394864.1:p.Val1718Leu missense NM_001407936.1:c.5152G>T NP_001394865.1:p.Val1718Leu missense NM_001407937.1:c.5225G>T NP_001394866.1:p.Cys1742Phe missense NM_001407938.1:c.5225G>T NP_001394867.1:p.Cys1742Phe missense NM_001407939.1:c.5222G>T NP_001394868.1:p.Cys1741Phe missense NM_001407940.1:c.5222G>T NP_001394869.1:p.Cys1741Phe missense NM_001407941.1:c.5219G>T NP_001394870.1:p.Cys1740Phe missense NM_001407942.1:c.5207G>T NP_001394871.1:p.Cys1736Phe missense NM_001407943.1:c.5204G>T NP_001394872.1:p.Cys1735Phe missense NM_001407944.1:c.5204G>T NP_001394873.1:p.Cys1735Phe missense NM_001407945.1:c.5204G>T NP_001394874.1:p.Cys1735Phe missense NM_001407946.1:c.5089G>T NP_001394875.1:p.Val1697Leu missense NM_001407947.1:c.5089G>T NP_001394876.1:p.Val1697Leu missense NM_001407948.1:c.5089G>T NP_001394877.1:p.Val1697Leu missense NM_001407949.1:c.5089G>T NP_001394878.1:p.Val1697Leu missense NM_001407950.1:c.5086G>T NP_001394879.1:p.Val1696Leu missense NM_001407951.1:c.5086G>T NP_001394880.1:p.Val1696Leu missense NM_001407952.1:c.5086G>T NP_001394881.1:p.Val1696Leu missense NM_001407953.1:c.5086G>T NP_001394882.1:p.Val1696Leu missense NM_001407954.1:c.5086G>T NP_001394883.1:p.Val1696Leu missense NM_001407955.1:c.5086G>T NP_001394884.1:p.Val1696Leu missense NM_001407956.1:c.5083G>T NP_001394885.1:p.Val1695Leu missense NM_001407957.1:c.5083G>T NP_001394886.1:p.Val1695Leu missense NM_001407958.1:c.5083G>T NP_001394887.1:p.Val1695Leu missense NM_001407959.1:c.5041G>T NP_001394888.1:p.Val1681Leu missense NM_001407960.1:c.5038G>T NP_001394889.1:p.Val1680Leu missense NM_001407962.1:c.5038G>T NP_001394891.1:p.Val1680Leu missense NM_001407963.1:c.5035G>T NP_001394892.1:p.Val1679Leu missense NM_001407964.1:c.4960G>T NP_001394893.1:p.Val1654Leu missense NM_001407965.1:c.4915G>T NP_001394894.1:p.Val1639Leu missense NM_001407966.1:c.4534G>T NP_001394895.1:p.Val1512Leu missense NM_001407967.1:c.4531G>T NP_001394896.1:p.Val1511Leu missense NM_001407968.1:c.2818G>T NP_001394897.1:p.Val940Leu missense NM_001407969.1:c.2815G>T NP_001394898.1:p.Val939Leu missense NM_001407970.1:c.2179G>T NP_001394899.1:p.Val727Leu missense NM_001407971.1:c.2179G>T NP_001394900.1:p.Val727Leu missense NM_001407972.1:c.2176G>T NP_001394901.1:p.Val726Leu missense NM_001407973.1:c.2113G>T NP_001394902.1:p.Val705Leu missense NM_001407974.1:c.2113G>T NP_001394903.1:p.Val705Leu missense NM_001407975.1:c.2113G>T NP_001394904.1:p.Val705Leu missense NM_001407976.1:c.2113G>T NP_001394905.1:p.Val705Leu missense NM_001407977.1:c.2113G>T NP_001394906.1:p.Val705Leu missense NM_001407978.1:c.2113G>T NP_001394907.1:p.Val705Leu missense NM_001407979.1:c.2110G>T NP_001394908.1:p.Val704Leu missense NM_001407980.1:c.2110G>T NP_001394909.1:p.Val704Leu missense NM_001407981.1:c.2110G>T NP_001394910.1:p.Val704Leu missense NM_001407982.1:c.2110G>T NP_001394911.1:p.Val704Leu missense NM_001407983.1:c.2110G>T NP_001394912.1:p.Val704Leu missense NM_001407984.1:c.2110G>T NP_001394913.1:p.Val704Leu missense NM_001407985.1:c.2110G>T NP_001394914.1:p.Val704Leu missense NM_001407986.1:c.2110G>T NP_001394915.1:p.Val704Leu missense NM_001407990.1:c.2110G>T NP_001394919.1:p.Val704Leu missense NM_001407991.1:c.2110G>T NP_001394920.1:p.Val704Leu missense NM_001407992.1:c.2110G>T NP_001394921.1:p.Val704Leu missense NM_001407993.1:c.2110G>T NP_001394922.1:p.Val704Leu missense NM_001408392.1:c.2107G>T NP_001395321.1:p.Val703Leu missense NM_001408396.1:c.2107G>T NP_001395325.1:p.Val703Leu missense NM_001408397.1:c.2107G>T NP_001395326.1:p.Val703Leu missense NM_001408398.1:c.2107G>T NP_001395327.1:p.Val703Leu missense NM_001408399.1:c.2107G>T NP_001395328.1:p.Val703Leu missense NM_001408400.1:c.2107G>T NP_001395329.1:p.Val703Leu missense NM_001408401.1:c.2107G>T NP_001395330.1:p.Val703Leu missense NM_001408402.1:c.2107G>T NP_001395331.1:p.Val703Leu missense NM_001408403.1:c.2107G>T NP_001395332.1:p.Val703Leu missense NM_001408404.1:c.2107G>T NP_001395333.1:p.Val703Leu missense NM_001408406.1:c.2104G>T NP_001395335.1:p.Val702Leu missense NM_001408407.1:c.2104G>T NP_001395336.1:p.Val702Leu missense NM_001408408.1:c.2104G>T NP_001395337.1:p.Val702Leu missense NM_001408409.1:c.2101G>T NP_001395338.1:p.Val701Leu missense NM_001408410.1:c.2038G>T NP_001395339.1:p.Val680Leu missense NM_001408411.1:c.2035G>T NP_001395340.1:p.Val679Leu missense NM_001408412.1:c.2032G>T NP_001395341.1:p.Val678Leu missense NM_001408413.1:c.2032G>T NP_001395342.1:p.Val678Leu missense NM_001408414.1:c.2032G>T NP_001395343.1:p.Val678Leu missense NM_001408415.1:c.2032G>T NP_001395344.1:p.Val678Leu missense NM_001408416.1:c.2032G>T NP_001395345.1:p.Val678Leu missense NM_001408418.1:c.1996G>T NP_001395347.1:p.Val666Leu missense NM_001408419.1:c.1996G>T NP_001395348.1:p.Val666Leu missense NM_001408420.1:c.1996G>T NP_001395349.1:p.Val666Leu missense NM_001408421.1:c.1993G>T NP_001395350.1:p.Val665Leu missense NM_001408422.1:c.1993G>T NP_001395351.1:p.Val665Leu missense NM_001408423.1:c.1993G>T NP_001395352.1:p.Val665Leu missense NM_001408424.1:c.1993G>T NP_001395353.1:p.Val665Leu missense NM_001408425.1:c.1990G>T NP_001395354.1:p.Val664Leu missense NM_001408426.1:c.1990G>T NP_001395355.1:p.Val664Leu missense NM_001408427.1:c.1990G>T NP_001395356.1:p.Val664Leu missense NM_001408428.1:c.1990G>T NP_001395357.1:p.Val664Leu missense NM_001408429.1:c.1990G>T NP_001395358.1:p.Val664Leu missense NM_001408430.1:c.1990G>T NP_001395359.1:p.Val664Leu missense NM_001408431.1:c.1990G>T NP_001395360.1:p.Val664Leu missense NM_001408432.1:c.1987G>T NP_001395361.1:p.Val663Leu missense NM_001408433.1:c.1987G>T NP_001395362.1:p.Val663Leu missense NM_001408434.1:c.1987G>T NP_001395363.1:p.Val663Leu missense NM_001408435.1:c.1987G>T NP_001395364.1:p.Val663Leu missense NM_001408436.1:c.1987G>T NP_001395365.1:p.Val663Leu missense NM_001408437.1:c.1987G>T NP_001395366.1:p.Val663Leu missense NM_001408438.1:c.1987G>T NP_001395367.1:p.Val663Leu missense NM_001408439.1:c.1987G>T NP_001395368.1:p.Val663Leu missense NM_001408440.1:c.1987G>T NP_001395369.1:p.Val663Leu missense NM_001408441.1:c.1987G>T NP_001395370.1:p.Val663Leu missense NM_001408442.1:c.1987G>T NP_001395371.1:p.Val663Leu missense NM_001408443.1:c.1987G>T NP_001395372.1:p.Val663Leu missense NM_001408444.1:c.1987G>T NP_001395373.1:p.Val663Leu missense NM_001408445.1:c.1984G>T NP_001395374.1:p.Val662Leu missense NM_001408446.1:c.1984G>T NP_001395375.1:p.Val662Leu missense NM_001408447.1:c.1984G>T NP_001395376.1:p.Val662Leu missense NM_001408448.1:c.1984G>T NP_001395377.1:p.Val662Leu missense NM_001408450.1:c.1984G>T NP_001395379.1:p.Val662Leu missense NM_001408451.1:c.1978G>T NP_001395380.1:p.Val660Leu missense NM_001408452.1:c.1972G>T NP_001395381.1:p.Val658Leu missense NM_001408453.1:c.1972G>T NP_001395382.1:p.Val658Leu missense NM_001408454.1:c.1972G>T NP_001395383.1:p.Val658Leu missense NM_001408455.1:c.1972G>T NP_001395384.1:p.Val658Leu missense NM_001408456.1:c.1972G>T NP_001395385.1:p.Val658Leu missense NM_001408457.1:c.1972G>T NP_001395386.1:p.Val658Leu missense NM_001408458.1:c.1969G>T NP_001395387.1:p.Val657Leu missense NM_001408459.1:c.1969G>T NP_001395388.1:p.Val657Leu missense NM_001408460.1:c.1969G>T NP_001395389.1:p.Val657Leu missense NM_001408461.1:c.1969G>T NP_001395390.1:p.Val657Leu missense NM_001408462.1:c.1969G>T NP_001395391.1:p.Val657Leu missense NM_001408463.1:c.1969G>T NP_001395392.1:p.Val657Leu missense NM_001408464.1:c.1969G>T NP_001395393.1:p.Val657Leu missense NM_001408465.1:c.1969G>T NP_001395394.1:p.Val657Leu missense NM_001408466.1:c.1969G>T NP_001395395.1:p.Val657Leu missense NM_001408467.1:c.1969G>T NP_001395396.1:p.Val657Leu missense NM_001408468.1:c.1966G>T NP_001395397.1:p.Val656Leu missense NM_001408469.1:c.1966G>T NP_001395398.1:p.Val656Leu missense NM_001408470.1:c.1966G>T NP_001395399.1:p.Val656Leu missense NM_001408472.1:c.2036G>T NP_001395401.1:p.Cys679Phe missense NM_001408473.1:c.2033G>T NP_001395402.1:p.Cys678Phe missense NM_001408474.1:c.1912G>T NP_001395403.1:p.Val638Leu missense NM_001408475.1:c.1909G>T NP_001395404.1:p.Val637Leu missense NM_001408476.1:c.1909G>T NP_001395405.1:p.Val637Leu missense NM_001408478.1:c.1903G>T NP_001395407.1:p.Val635Leu missense NM_001408479.1:c.1903G>T NP_001395408.1:p.Val635Leu missense NM_001408480.1:c.1903G>T NP_001395409.1:p.Val635Leu missense NM_001408481.1:c.1900G>T NP_001395410.1:p.Val634Leu missense NM_001408482.1:c.1900G>T NP_001395411.1:p.Val634Leu missense NM_001408483.1:c.1900G>T NP_001395412.1:p.Val634Leu missense NM_001408484.1:c.1900G>T NP_001395413.1:p.Val634Leu missense NM_001408485.1:c.1900G>T NP_001395414.1:p.Val634Leu missense NM_001408489.1:c.1900G>T NP_001395418.1:p.Val634Leu missense NM_001408490.1:c.1900G>T NP_001395419.1:p.Val634Leu missense NM_001408491.1:c.1900G>T NP_001395420.1:p.Val634Leu missense NM_001408492.1:c.1897G>T NP_001395421.1:p.Val633Leu missense NM_001408493.1:c.1897G>T NP_001395422.1:p.Val633Leu missense NM_001408494.1:c.1873G>T NP_001395423.1:p.Val625Leu missense NM_001408495.1:c.1867G>T NP_001395424.1:p.Val623Leu missense NM_001408496.1:c.1849G>T NP_001395425.1:p.Val617Leu missense NM_001408497.1:c.1849G>T NP_001395426.1:p.Val617Leu missense NM_001408498.1:c.1849G>T NP_001395427.1:p.Val617Leu missense NM_001408499.1:c.1849G>T NP_001395428.1:p.Val617Leu missense NM_001408500.1:c.1849G>T NP_001395429.1:p.Val617Leu missense NM_001408501.1:c.1849G>T NP_001395430.1:p.Val617Leu missense NM_001408502.1:c.1846G>T NP_001395431.1:p.Val616Leu missense NM_001408503.1:c.1846G>T NP_001395432.1:p.Val616Leu missense NM_001408504.1:c.1846G>T NP_001395433.1:p.Val616Leu missense NM_001408505.1:c.1843G>T NP_001395434.1:p.Val615Leu missense NM_001408506.1:c.1786G>T NP_001395435.1:p.Val596Leu missense NM_001408507.1:c.1783G>T NP_001395436.1:p.Val595Leu missense NM_001408508.1:c.1774G>T NP_001395437.1:p.Val592Leu missense NM_001408509.1:c.1771G>T NP_001395438.1:p.Val591Leu missense NM_001408510.1:c.1732G>T NP_001395439.1:p.Val578Leu missense NM_001408511.1:c.1729G>T NP_001395440.1:p.Val577Leu missense NM_001408512.1:c.1609G>T NP_001395441.1:p.Val537Leu missense NM_001408513.1:c.1582G>T NP_001395442.1:p.Val528Leu missense NM_001408514.1:c.1186G>T NP_001395443.1:p.Val396Leu missense NM_007297.4:c.5281G>T NP_009228.2:p.Val1761Leu missense NM_007298.4:c.2110G>T NP_009229.2:p.Val704Leu missense NM_007299.4:c.2036G>T NP_009230.2:p.Cys679Phe missense NM_007300.4:c.5485G>T NP_009231.2:p.Val1829Leu missense NM_007304.2:c.2110G>T NP_009235.2:p.Val704Leu missense NR_027676.2:n.5599G>T non-coding transcript variant NC_000017.11:g.43047688C>A NC_000017.10:g.41199705C>A NG_005905.2:g.170296G>T LRG_292:g.170296G>T LRG_292t1:c.5422G>T LRG_292p1:p.Val1808Leu - Protein change
- V1808L, C679F, V1761L, V1829L, V704L, C1740F, C1741F, C1783F, V1639L, V1680L, V1719L, V1737L, V1739L, V1765L, V1807L, V1830L, V591L, V592L, V637L, V662L, V665L, V680L, V703L, V940L, C1735F, C1736F, C1782F, C678F, V1511L, V1697L, V1720L, V1740L, V1760L, V1766L, V1780L, V1789L, V1804L, V1806L, V595L, V596L, V616L, V623L, V625L, V666L, V1512L, V1654L, V1679L, V1681L, V1695L, V1696L, V1718L, V1738L, V1759L, V1764L, V1767L, V1803L, V1805L, V1828L, V396L, V537L, V577L, V578L, V634L, V660L, V664L, V701L, V702L, V705L, C1742F, C1781F, V1724L, V1736L, V1741L, V1781L, V1782L, V1788L, V528L, V615L, V617L, V633L, V635L, V638L, V656L, V657L, V658L, V663L, V678L, V679L, V726L, V727L, V939L
- Other names
- p.Val1808Leu
- Canonical SPDI
- NC_000017.11:43047687:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
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. |
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Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
|
Oct 25, 2022 | RCV000580194.9 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Dec 13, 2023 | RCV000804227.9 | |
Uncertain significance (1) |
criteria provided, single submitter
|
May 1, 2023 | RCV003459418.1 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 23, 2023 | RCV003478305.1 |
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
(May 01, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215149.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Uncertain significance
(Oct 23, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
Accession: SCV004175709.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
Heterozygous variant NM_007294:c.5422G>T (p.Val1808Leu) in the BRCA1 gene was found on WES data in female proband (45 y.o., Caucasian) with breast cancer. No additional rare … (more)
Heterozygous variant NM_007294:c.5422G>T (p.Val1808Leu) in the BRCA1 gene was found on WES data in female proband (45 y.o., Caucasian) with breast cancer. No additional rare candidate variants (Class III-V of pathogenicity) were found in this proband. This variant is absent in The Genome Aggregation Database (gnomAD) v2.1.1 and v.3.1.2 (Date of access with 23-10-2023). Clinvar contains an entry for this variant (Variation ID: 489731). This variant has not been reported in any study to our knowledge. Functional analysis of an alternative change c.5422G>C with the same protein change p.Val1808Leu shows normal functioning of the protein (https://sge.gs.washington.edu/BRCA1/). Most in silico predictors are inconclusive in the results (varsome.com). In accordance with ACMG(2015) criteria this variant is classified as Variant of Uncertain Significance (VUS) with following criteria selected: BS3_moderate, PM2. (less)
Age: 40-49 years
Sex: female
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Uncertain significance
(Dec 13, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000944124.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1808 of the BRCA1 protein (p.Val1808Leu). … (more)
This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1808 of the BRCA1 protein (p.Val1808Leu). 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: 489731). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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)
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Uncertain significance
(Oct 25, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000683313.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces valine with leucine at codon 1808 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces valine with leucine at codon 1808 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 not been reported in individuals affected with hereditary cancer in the literature. 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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Likely benign
(Mar 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002647929.2
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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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 |
---|---|---|---|---|
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Text-mined citations for rs1555574756 ...
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.