ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5357T>G (p.Leu1786Arg)
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.5357T>G (p.Leu1786Arg)
Variation ID: 865378 Accession: VCV000865378.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049170 (GRCh38) [ NCBI UCSC ] 17: 41201187 (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.5357T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1786Arg missense NM_001407571.1:c.5144T>G NP_001394500.1:p.Leu1715Arg missense NM_001407581.1:c.5423T>G NP_001394510.1:p.Leu1808Arg missense NM_001407582.1:c.5423T>G NP_001394511.1:p.Leu1808Arg missense NM_001407583.1:c.5420T>G NP_001394512.1:p.Leu1807Arg missense NM_001407585.1:c.5420T>G NP_001394514.1:p.Leu1807Arg missense NM_001407587.1:c.5420T>G NP_001394516.1:p.Leu1807Arg missense NM_001407590.1:c.5417T>G NP_001394519.1:p.Leu1806Arg missense NM_001407591.1:c.5417T>G NP_001394520.1:p.Leu1806Arg missense NM_001407593.1:c.5357T>G NP_001394522.1:p.Leu1786Arg missense NM_001407594.1:c.5357T>G NP_001394523.1:p.Leu1786Arg missense NM_001407596.1:c.5357T>G NP_001394525.1:p.Leu1786Arg missense NM_001407597.1:c.5357T>G NP_001394526.1:p.Leu1786Arg missense NM_001407598.1:c.5357T>G NP_001394527.1:p.Leu1786Arg missense NM_001407602.1:c.5357T>G NP_001394531.1:p.Leu1786Arg missense NM_001407603.1:c.5357T>G NP_001394532.1:p.Leu1786Arg missense NM_001407605.1:c.5357T>G NP_001394534.1:p.Leu1786Arg missense NM_001407610.1:c.5354T>G NP_001394539.1:p.Leu1785Arg missense NM_001407611.1:c.5354T>G NP_001394540.1:p.Leu1785Arg missense NM_001407612.1:c.5354T>G NP_001394541.1:p.Leu1785Arg missense NM_001407613.1:c.5354T>G NP_001394542.1:p.Leu1785Arg missense NM_001407614.1:c.5354T>G NP_001394543.1:p.Leu1785Arg missense NM_001407615.1:c.5354T>G NP_001394544.1:p.Leu1785Arg missense NM_001407616.1:c.5354T>G NP_001394545.1:p.Leu1785Arg missense NM_001407617.1:c.5354T>G NP_001394546.1:p.Leu1785Arg missense NM_001407618.1:c.5354T>G NP_001394547.1:p.Leu1785Arg missense NM_001407619.1:c.5354T>G NP_001394548.1:p.Leu1785Arg missense NM_001407620.1:c.5354T>G NP_001394549.1:p.Leu1785Arg missense NM_001407621.1:c.5354T>G NP_001394550.1:p.Leu1785Arg missense NM_001407622.1:c.5354T>G NP_001394551.1:p.Leu1785Arg missense NM_001407623.1:c.5354T>G NP_001394552.1:p.Leu1785Arg missense NM_001407624.1:c.5354T>G NP_001394553.1:p.Leu1785Arg missense NM_001407625.1:c.5354T>G NP_001394554.1:p.Leu1785Arg missense NM_001407626.1:c.5354T>G NP_001394555.1:p.Leu1785Arg missense NM_001407627.1:c.5351T>G NP_001394556.1:p.Leu1784Arg missense NM_001407628.1:c.5351T>G NP_001394557.1:p.Leu1784Arg missense NM_001407629.1:c.5351T>G NP_001394558.1:p.Leu1784Arg missense NM_001407630.1:c.5351T>G NP_001394559.1:p.Leu1784Arg missense NM_001407631.1:c.5351T>G NP_001394560.1:p.Leu1784Arg missense NM_001407632.1:c.5351T>G NP_001394561.1:p.Leu1784Arg missense NM_001407633.1:c.5351T>G NP_001394562.1:p.Leu1784Arg missense NM_001407634.1:c.5351T>G NP_001394563.1:p.Leu1784Arg missense NM_001407635.1:c.5351T>G NP_001394564.1:p.Leu1784Arg missense NM_001407636.1:c.5351T>G NP_001394565.1:p.Leu1784Arg missense NM_001407637.1:c.5351T>G NP_001394566.1:p.Leu1784Arg missense NM_001407638.1:c.5351T>G NP_001394567.1:p.Leu1784Arg missense NM_001407639.1:c.5351T>G NP_001394568.1:p.Leu1784Arg missense NM_001407640.1:c.5351T>G NP_001394569.1:p.Leu1784Arg missense NM_001407641.1:c.5351T>G NP_001394570.1:p.Leu1784Arg missense NM_001407642.1:c.5351T>G NP_001394571.1:p.Leu1784Arg missense NM_001407644.1:c.5348T>G NP_001394573.1:p.Leu1783Arg missense NM_001407645.1:c.5348T>G NP_001394574.1:p.Leu1783Arg missense NM_001407646.1:c.5345T>G NP_001394575.1:p.Leu1782Arg missense NM_001407647.1:c.5342T>G NP_001394576.1:p.Leu1781Arg missense NM_001407648.1:c.5300T>G NP_001394577.1:p.Leu1767Arg missense NM_001407649.1:c.5297T>G NP_001394578.1:p.Leu1766Arg missense NM_001407652.1:c.5279T>G NP_001394581.1:p.Leu1760Arg missense NM_001407653.1:c.5279T>G NP_001394582.1:p.Leu1760Arg missense NM_001407654.1:c.5279T>G NP_001394583.1:p.Leu1760Arg missense NM_001407655.1:c.5279T>G NP_001394584.1:p.Leu1760Arg missense NM_001407656.1:c.5276T>G NP_001394585.1:p.Leu1759Arg missense NM_001407657.1:c.5276T>G NP_001394586.1:p.Leu1759Arg missense NM_001407658.1:c.5276T>G NP_001394587.1:p.Leu1759Arg missense NM_001407659.1:c.5273T>G NP_001394588.1:p.Leu1758Arg missense NM_001407660.1:c.5273T>G NP_001394589.1:p.Leu1758Arg missense NM_001407661.1:c.5273T>G NP_001394590.1:p.Leu1758Arg missense NM_001407662.1:c.5273T>G NP_001394591.1:p.Leu1758Arg missense NM_001407663.1:c.5273T>G NP_001394592.1:p.Leu1758Arg missense NM_001407664.1:c.5234T>G NP_001394593.1:p.Leu1745Arg missense NM_001407665.1:c.5234T>G NP_001394594.1:p.Leu1745Arg missense NM_001407666.1:c.5234T>G NP_001394595.1:p.Leu1745Arg missense NM_001407667.1:c.5234T>G NP_001394596.1:p.Leu1745Arg missense NM_001407668.1:c.5234T>G NP_001394597.1:p.Leu1745Arg missense NM_001407669.1:c.5234T>G NP_001394598.1:p.Leu1745Arg missense NM_001407670.1:c.5231T>G NP_001394599.1:p.Leu1744Arg missense NM_001407671.1:c.5231T>G NP_001394600.1:p.Leu1744Arg missense NM_001407672.1:c.5231T>G NP_001394601.1:p.Leu1744Arg missense NM_001407673.1:c.5231T>G NP_001394602.1:p.Leu1744Arg missense NM_001407674.1:c.5231T>G NP_001394603.1:p.Leu1744Arg missense NM_001407675.1:c.5231T>G NP_001394604.1:p.Leu1744Arg missense NM_001407676.1:c.5231T>G NP_001394605.1:p.Leu1744Arg missense NM_001407677.1:c.5231T>G NP_001394606.1:p.Leu1744Arg missense NM_001407678.1:c.5231T>G NP_001394607.1:p.Leu1744Arg missense NM_001407679.1:c.5231T>G NP_001394608.1:p.Leu1744Arg missense NM_001407680.1:c.5231T>G NP_001394609.1:p.Leu1744Arg missense NM_001407681.1:c.5228T>G NP_001394610.1:p.Leu1743Arg missense NM_001407682.1:c.5228T>G NP_001394611.1:p.Leu1743Arg missense NM_001407683.1:c.5228T>G NP_001394612.1:p.Leu1743Arg missense NM_001407685.1:c.5228T>G NP_001394614.1:p.Leu1743Arg missense NM_001407686.1:c.5228T>G NP_001394615.1:p.Leu1743Arg missense NM_001407687.1:c.5228T>G NP_001394616.1:p.Leu1743Arg missense NM_001407688.1:c.5228T>G NP_001394617.1:p.Leu1743Arg missense NM_001407689.1:c.5228T>G NP_001394618.1:p.Leu1743Arg missense NM_001407690.1:c.5225T>G NP_001394619.1:p.Leu1742Arg missense NM_001407691.1:c.5225T>G NP_001394620.1:p.Leu1742Arg missense NM_001407692.1:c.5216T>G NP_001394621.1:p.Leu1739Arg missense NM_001407694.1:c.5216T>G NP_001394623.1:p.Leu1739Arg missense NM_001407695.1:c.5216T>G NP_001394624.1:p.Leu1739Arg missense NM_001407696.1:c.5216T>G NP_001394625.1:p.Leu1739Arg missense NM_001407697.1:c.5216T>G NP_001394626.1:p.Leu1739Arg missense NM_001407698.1:c.5216T>G NP_001394627.1:p.Leu1739Arg missense NM_001407724.1:c.5216T>G NP_001394653.1:p.Leu1739Arg missense NM_001407725.1:c.5216T>G NP_001394654.1:p.Leu1739Arg missense NM_001407726.1:c.5216T>G NP_001394655.1:p.Leu1739Arg missense NM_001407727.1:c.5216T>G NP_001394656.1:p.Leu1739Arg missense NM_001407728.1:c.5216T>G NP_001394657.1:p.Leu1739Arg missense NM_001407729.1:c.5216T>G NP_001394658.1:p.Leu1739Arg missense NM_001407730.1:c.5216T>G NP_001394659.1:p.Leu1739Arg missense NM_001407731.1:c.5216T>G NP_001394660.1:p.Leu1739Arg missense NM_001407732.1:c.5213T>G NP_001394661.1:p.Leu1738Arg missense NM_001407733.1:c.5213T>G NP_001394662.1:p.Leu1738Arg missense NM_001407734.1:c.5213T>G NP_001394663.1:p.Leu1738Arg missense NM_001407735.1:c.5213T>G NP_001394664.1:p.Leu1738Arg missense NM_001407736.1:c.5213T>G NP_001394665.1:p.Leu1738Arg missense NM_001407737.1:c.5213T>G NP_001394666.1:p.Leu1738Arg missense NM_001407738.1:c.5213T>G NP_001394667.1:p.Leu1738Arg missense NM_001407739.1:c.5213T>G NP_001394668.1:p.Leu1738Arg missense NM_001407740.1:c.5213T>G NP_001394669.1:p.Leu1738Arg missense NM_001407741.1:c.5213T>G NP_001394670.1:p.Leu1738Arg missense NM_001407742.1:c.5213T>G NP_001394671.1:p.Leu1738Arg missense NM_001407743.1:c.5213T>G NP_001394672.1:p.Leu1738Arg missense NM_001407744.1:c.5213T>G NP_001394673.1:p.Leu1738Arg missense NM_001407745.1:c.5213T>G NP_001394674.1:p.Leu1738Arg missense NM_001407746.1:c.5213T>G NP_001394675.1:p.Leu1738Arg missense NM_001407747.1:c.5213T>G NP_001394676.1:p.Leu1738Arg missense NM_001407748.1:c.5213T>G NP_001394677.1:p.Leu1738Arg missense NM_001407749.1:c.5213T>G NP_001394678.1:p.Leu1738Arg missense NM_001407750.1:c.5213T>G NP_001394679.1:p.Leu1738Arg missense NM_001407751.1:c.5213T>G NP_001394680.1:p.Leu1738Arg missense NM_001407752.1:c.5213T>G NP_001394681.1:p.Leu1738Arg missense NM_001407838.1:c.5210T>G NP_001394767.1:p.Leu1737Arg missense NM_001407839.1:c.5210T>G NP_001394768.1:p.Leu1737Arg missense NM_001407841.1:c.5210T>G NP_001394770.1:p.Leu1737Arg missense NM_001407842.1:c.5210T>G NP_001394771.1:p.Leu1737Arg missense NM_001407843.1:c.5210T>G NP_001394772.1:p.Leu1737Arg missense NM_001407844.1:c.5210T>G NP_001394773.1:p.Leu1737Arg missense NM_001407845.1:c.5210T>G NP_001394774.1:p.Leu1737Arg missense NM_001407846.1:c.5210T>G NP_001394775.1:p.Leu1737Arg missense NM_001407847.1:c.5210T>G NP_001394776.1:p.Leu1737Arg missense NM_001407848.1:c.5210T>G NP_001394777.1:p.Leu1737Arg missense NM_001407849.1:c.5210T>G NP_001394778.1:p.Leu1737Arg missense NM_001407850.1:c.5210T>G NP_001394779.1:p.Leu1737Arg missense NM_001407851.1:c.5210T>G NP_001394780.1:p.Leu1737Arg missense NM_001407852.1:c.5210T>G NP_001394781.1:p.Leu1737Arg missense NM_001407853.1:c.5210T>G NP_001394782.1:p.Leu1737Arg missense NM_001407862.1:c.5156T>G NP_001394791.1:p.Leu1719Arg missense NM_001407863.1:c.5153T>G NP_001394792.1:p.Leu1718Arg missense NM_001407874.1:c.5150T>G NP_001394803.1:p.Leu1717Arg missense NM_001407875.1:c.5150T>G NP_001394804.1:p.Leu1717Arg missense NM_001407879.1:c.5147T>G NP_001394808.1:p.Leu1716Arg missense NM_001407881.1:c.5147T>G NP_001394810.1:p.Leu1716Arg missense NM_001407882.1:c.5147T>G NP_001394811.1:p.Leu1716Arg missense NM_001407884.1:c.5147T>G NP_001394813.1:p.Leu1716Arg missense NM_001407885.1:c.5147T>G NP_001394814.1:p.Leu1716Arg missense NM_001407886.1:c.5147T>G NP_001394815.1:p.Leu1716Arg missense NM_001407887.1:c.5147T>G NP_001394816.1:p.Leu1716Arg missense NM_001407889.1:c.5147T>G NP_001394818.1:p.Leu1716Arg missense NM_001407894.1:c.5144T>G NP_001394823.1:p.Leu1715Arg missense NM_001407895.1:c.5144T>G NP_001394824.1:p.Leu1715Arg missense NM_001407896.1:c.5144T>G NP_001394825.1:p.Leu1715Arg missense NM_001407897.1:c.5144T>G NP_001394826.1:p.Leu1715Arg missense NM_001407898.1:c.5144T>G NP_001394827.1:p.Leu1715Arg missense NM_001407899.1:c.5144T>G NP_001394828.1:p.Leu1715Arg missense NM_001407900.1:c.5144T>G NP_001394829.1:p.Leu1715Arg missense NM_001407902.1:c.5144T>G NP_001394831.1:p.Leu1715Arg missense NM_001407904.1:c.5144T>G NP_001394833.1:p.Leu1715Arg missense NM_001407906.1:c.5144T>G NP_001394835.1:p.Leu1715Arg missense NM_001407907.1:c.5144T>G NP_001394836.1:p.Leu1715Arg missense NM_001407908.1:c.5144T>G NP_001394837.1:p.Leu1715Arg missense NM_001407909.1:c.5144T>G NP_001394838.1:p.Leu1715Arg missense NM_001407910.1:c.5144T>G NP_001394839.1:p.Leu1715Arg missense NM_001407915.1:c.5141T>G NP_001394844.1:p.Leu1714Arg missense NM_001407916.1:c.5141T>G NP_001394845.1:p.Leu1714Arg missense NM_001407917.1:c.5141T>G NP_001394846.1:p.Leu1714Arg missense NM_001407918.1:c.5141T>G NP_001394847.1:p.Leu1714Arg missense NM_001407920.1:c.5093T>G NP_001394849.1:p.Leu1698Arg missense NM_001407921.1:c.5093T>G NP_001394850.1:p.Leu1698Arg missense NM_001407922.1:c.5093T>G NP_001394851.1:p.Leu1698Arg missense NM_001407923.1:c.5093T>G NP_001394852.1:p.Leu1698Arg missense NM_001407924.1:c.5093T>G NP_001394853.1:p.Leu1698Arg missense NM_001407925.1:c.5093T>G NP_001394854.1:p.Leu1698Arg missense NM_001407926.1:c.5093T>G NP_001394855.1:p.Leu1698Arg missense NM_001407927.1:c.5090T>G NP_001394856.1:p.Leu1697Arg missense NM_001407928.1:c.5090T>G NP_001394857.1:p.Leu1697Arg missense NM_001407929.1:c.5090T>G NP_001394858.1:p.Leu1697Arg missense NM_001407930.1:c.5090T>G NP_001394859.1:p.Leu1697Arg missense NM_001407931.1:c.5090T>G NP_001394860.1:p.Leu1697Arg missense NM_001407932.1:c.5090T>G NP_001394861.1:p.Leu1697Arg missense NM_001407933.1:c.5090T>G NP_001394862.1:p.Leu1697Arg missense NM_001407934.1:c.5087T>G NP_001394863.1:p.Leu1696Arg missense NM_001407935.1:c.5087T>G NP_001394864.1:p.Leu1696Arg missense NM_001407936.1:c.5087T>G NP_001394865.1:p.Leu1696Arg missense NM_001407946.1:c.5024T>G NP_001394875.1:p.Leu1675Arg missense NM_001407947.1:c.5024T>G NP_001394876.1:p.Leu1675Arg missense NM_001407948.1:c.5024T>G NP_001394877.1:p.Leu1675Arg missense NM_001407949.1:c.5024T>G NP_001394878.1:p.Leu1675Arg missense NM_001407950.1:c.5021T>G NP_001394879.1:p.Leu1674Arg missense NM_001407951.1:c.5021T>G NP_001394880.1:p.Leu1674Arg missense NM_001407952.1:c.5021T>G NP_001394881.1:p.Leu1674Arg missense NM_001407953.1:c.5021T>G NP_001394882.1:p.Leu1674Arg missense NM_001407954.1:c.5021T>G NP_001394883.1:p.Leu1674Arg missense NM_001407955.1:c.5021T>G NP_001394884.1:p.Leu1674Arg missense NM_001407956.1:c.5018T>G NP_001394885.1:p.Leu1673Arg missense NM_001407957.1:c.5018T>G NP_001394886.1:p.Leu1673Arg missense NM_001407958.1:c.5018T>G NP_001394887.1:p.Leu1673Arg missense NM_001407959.1:c.4976T>G NP_001394888.1:p.Leu1659Arg missense NM_001407960.1:c.4973T>G NP_001394889.1:p.Leu1658Arg missense NM_001407962.1:c.4973T>G NP_001394891.1:p.Leu1658Arg missense NM_001407963.1:c.4970T>G NP_001394892.1:p.Leu1657Arg missense NM_001407964.1:c.4895T>G NP_001394893.1:p.Leu1632Arg missense NM_001407965.1:c.4850T>G NP_001394894.1:p.Leu1617Arg missense NM_001407966.1:c.4469T>G NP_001394895.1:p.Leu1490Arg missense NM_001407967.1:c.4466T>G NP_001394896.1:p.Leu1489Arg missense NM_001407968.1:c.2753T>G NP_001394897.1:p.Leu918Arg missense NM_001407969.1:c.2750T>G NP_001394898.1:p.Leu917Arg missense NM_001407970.1:c.2114T>G NP_001394899.1:p.Leu705Arg missense NM_001407971.1:c.2114T>G NP_001394900.1:p.Leu705Arg missense NM_001407972.1:c.2111T>G NP_001394901.1:p.Leu704Arg missense NM_001407973.1:c.2048T>G NP_001394902.1:p.Leu683Arg missense NM_001407974.1:c.2048T>G NP_001394903.1:p.Leu683Arg missense NM_001407975.1:c.2048T>G NP_001394904.1:p.Leu683Arg missense NM_001407976.1:c.2048T>G NP_001394905.1:p.Leu683Arg missense NM_001407977.1:c.2048T>G NP_001394906.1:p.Leu683Arg missense NM_001407978.1:c.2048T>G NP_001394907.1:p.Leu683Arg missense NM_001407979.1:c.2045T>G NP_001394908.1:p.Leu682Arg missense NM_001407980.1:c.2045T>G NP_001394909.1:p.Leu682Arg missense NM_001407981.1:c.2045T>G NP_001394910.1:p.Leu682Arg missense NM_001407982.1:c.2045T>G NP_001394911.1:p.Leu682Arg missense NM_001407983.1:c.2045T>G NP_001394912.1:p.Leu682Arg missense NM_001407984.1:c.2045T>G NP_001394913.1:p.Leu682Arg missense NM_001407985.1:c.2045T>G NP_001394914.1:p.Leu682Arg missense NM_001407986.1:c.2045T>G NP_001394915.1:p.Leu682Arg missense NM_001407990.1:c.2045T>G NP_001394919.1:p.Leu682Arg missense NM_001407991.1:c.2045T>G NP_001394920.1:p.Leu682Arg missense NM_001407992.1:c.2045T>G NP_001394921.1:p.Leu682Arg missense NM_001407993.1:c.2045T>G NP_001394922.1:p.Leu682Arg missense NM_001408392.1:c.2042T>G NP_001395321.1:p.Leu681Arg missense NM_001408396.1:c.2042T>G NP_001395325.1:p.Leu681Arg missense NM_001408397.1:c.2042T>G NP_001395326.1:p.Leu681Arg missense NM_001408398.1:c.2042T>G NP_001395327.1:p.Leu681Arg missense NM_001408399.1:c.2042T>G NP_001395328.1:p.Leu681Arg missense NM_001408400.1:c.2042T>G NP_001395329.1:p.Leu681Arg missense NM_001408401.1:c.2042T>G NP_001395330.1:p.Leu681Arg missense NM_001408402.1:c.2042T>G NP_001395331.1:p.Leu681Arg missense NM_001408403.1:c.2042T>G NP_001395332.1:p.Leu681Arg missense NM_001408404.1:c.2042T>G NP_001395333.1:p.Leu681Arg missense NM_001408406.1:c.2039T>G NP_001395335.1:p.Leu680Arg missense NM_001408407.1:c.2039T>G NP_001395336.1:p.Leu680Arg missense NM_001408408.1:c.2039T>G NP_001395337.1:p.Leu680Arg missense NM_001408409.1:c.2036T>G NP_001395338.1:p.Leu679Arg missense NM_001408410.1:c.1973T>G NP_001395339.1:p.Leu658Arg missense NM_001408411.1:c.1970T>G NP_001395340.1:p.Leu657Arg missense NM_001408412.1:c.1967T>G NP_001395341.1:p.Leu656Arg missense NM_001408413.1:c.1967T>G NP_001395342.1:p.Leu656Arg missense NM_001408414.1:c.1967T>G NP_001395343.1:p.Leu656Arg missense NM_001408415.1:c.1967T>G NP_001395344.1:p.Leu656Arg missense NM_001408416.1:c.1967T>G NP_001395345.1:p.Leu656Arg missense NM_001408418.1:c.1931T>G NP_001395347.1:p.Leu644Arg missense NM_001408419.1:c.1931T>G NP_001395348.1:p.Leu644Arg missense NM_001408420.1:c.1931T>G NP_001395349.1:p.Leu644Arg missense NM_001408421.1:c.1928T>G NP_001395350.1:p.Leu643Arg missense NM_001408422.1:c.1928T>G NP_001395351.1:p.Leu643Arg missense NM_001408423.1:c.1928T>G NP_001395352.1:p.Leu643Arg missense NM_001408424.1:c.1928T>G NP_001395353.1:p.Leu643Arg missense NM_001408425.1:c.1925T>G NP_001395354.1:p.Leu642Arg missense NM_001408426.1:c.1925T>G NP_001395355.1:p.Leu642Arg missense NM_001408427.1:c.1925T>G NP_001395356.1:p.Leu642Arg missense NM_001408428.1:c.1925T>G NP_001395357.1:p.Leu642Arg missense NM_001408429.1:c.1925T>G NP_001395358.1:p.Leu642Arg missense NM_001408430.1:c.1925T>G NP_001395359.1:p.Leu642Arg missense NM_001408431.1:c.1925T>G NP_001395360.1:p.Leu642Arg missense NM_001408432.1:c.1922T>G NP_001395361.1:p.Leu641Arg missense NM_001408433.1:c.1922T>G NP_001395362.1:p.Leu641Arg missense NM_001408434.1:c.1922T>G NP_001395363.1:p.Leu641Arg missense NM_001408435.1:c.1922T>G NP_001395364.1:p.Leu641Arg missense NM_001408436.1:c.1922T>G NP_001395365.1:p.Leu641Arg missense NM_001408437.1:c.1922T>G NP_001395366.1:p.Leu641Arg missense NM_001408438.1:c.1922T>G NP_001395367.1:p.Leu641Arg missense NM_001408439.1:c.1922T>G NP_001395368.1:p.Leu641Arg missense NM_001408440.1:c.1922T>G NP_001395369.1:p.Leu641Arg missense NM_001408441.1:c.1922T>G NP_001395370.1:p.Leu641Arg missense NM_001408442.1:c.1922T>G NP_001395371.1:p.Leu641Arg missense NM_001408443.1:c.1922T>G NP_001395372.1:p.Leu641Arg missense NM_001408444.1:c.1922T>G NP_001395373.1:p.Leu641Arg missense NM_001408445.1:c.1919T>G NP_001395374.1:p.Leu640Arg missense NM_001408446.1:c.1919T>G NP_001395375.1:p.Leu640Arg missense NM_001408447.1:c.1919T>G NP_001395376.1:p.Leu640Arg missense NM_001408448.1:c.1919T>G NP_001395377.1:p.Leu640Arg missense NM_001408450.1:c.1919T>G NP_001395379.1:p.Leu640Arg missense NM_001408451.1:c.1913T>G NP_001395380.1:p.Leu638Arg missense NM_001408452.1:c.1907T>G NP_001395381.1:p.Leu636Arg missense NM_001408453.1:c.1907T>G NP_001395382.1:p.Leu636Arg missense NM_001408454.1:c.1907T>G NP_001395383.1:p.Leu636Arg missense NM_001408455.1:c.1907T>G NP_001395384.1:p.Leu636Arg missense NM_001408456.1:c.1907T>G NP_001395385.1:p.Leu636Arg missense NM_001408457.1:c.1907T>G NP_001395386.1:p.Leu636Arg missense NM_001408458.1:c.1904T>G NP_001395387.1:p.Leu635Arg missense NM_001408459.1:c.1904T>G NP_001395388.1:p.Leu635Arg missense NM_001408460.1:c.1904T>G NP_001395389.1:p.Leu635Arg missense NM_001408461.1:c.1904T>G NP_001395390.1:p.Leu635Arg missense NM_001408462.1:c.1904T>G NP_001395391.1:p.Leu635Arg missense NM_001408463.1:c.1904T>G NP_001395392.1:p.Leu635Arg missense NM_001408464.1:c.1904T>G NP_001395393.1:p.Leu635Arg missense NM_001408465.1:c.1904T>G NP_001395394.1:p.Leu635Arg missense NM_001408466.1:c.1904T>G NP_001395395.1:p.Leu635Arg missense NM_001408467.1:c.1904T>G NP_001395396.1:p.Leu635Arg missense NM_001408468.1:c.1901T>G NP_001395397.1:p.Leu634Arg missense NM_001408469.1:c.1901T>G NP_001395398.1:p.Leu634Arg missense NM_001408470.1:c.1901T>G NP_001395399.1:p.Leu634Arg missense NM_001408474.1:c.1847T>G NP_001395403.1:p.Leu616Arg missense NM_001408475.1:c.1844T>G NP_001395404.1:p.Leu615Arg missense NM_001408476.1:c.1844T>G NP_001395405.1:p.Leu615Arg missense NM_001408478.1:c.1838T>G NP_001395407.1:p.Leu613Arg missense NM_001408479.1:c.1838T>G NP_001395408.1:p.Leu613Arg missense NM_001408480.1:c.1838T>G NP_001395409.1:p.Leu613Arg missense NM_001408481.1:c.1835T>G NP_001395410.1:p.Leu612Arg missense NM_001408482.1:c.1835T>G NP_001395411.1:p.Leu612Arg missense NM_001408483.1:c.1835T>G NP_001395412.1:p.Leu612Arg missense NM_001408484.1:c.1835T>G NP_001395413.1:p.Leu612Arg missense NM_001408485.1:c.1835T>G NP_001395414.1:p.Leu612Arg missense NM_001408489.1:c.1835T>G NP_001395418.1:p.Leu612Arg missense NM_001408490.1:c.1835T>G NP_001395419.1:p.Leu612Arg missense NM_001408491.1:c.1835T>G NP_001395420.1:p.Leu612Arg missense NM_001408492.1:c.1832T>G NP_001395421.1:p.Leu611Arg missense NM_001408493.1:c.1832T>G NP_001395422.1:p.Leu611Arg missense NM_001408494.1:c.1808T>G NP_001395423.1:p.Leu603Arg missense NM_001408495.1:c.1802T>G NP_001395424.1:p.Leu601Arg missense NM_001408496.1:c.1784T>G NP_001395425.1:p.Leu595Arg missense NM_001408497.1:c.1784T>G NP_001395426.1:p.Leu595Arg missense NM_001408498.1:c.1784T>G NP_001395427.1:p.Leu595Arg missense NM_001408499.1:c.1784T>G NP_001395428.1:p.Leu595Arg missense NM_001408500.1:c.1784T>G NP_001395429.1:p.Leu595Arg missense NM_001408501.1:c.1784T>G NP_001395430.1:p.Leu595Arg missense NM_001408502.1:c.1781T>G NP_001395431.1:p.Leu594Arg missense NM_001408503.1:c.1781T>G NP_001395432.1:p.Leu594Arg missense NM_001408504.1:c.1781T>G NP_001395433.1:p.Leu594Arg missense NM_001408505.1:c.1778T>G NP_001395434.1:p.Leu593Arg missense NM_001408506.1:c.1721T>G NP_001395435.1:p.Leu574Arg missense NM_001408507.1:c.1718T>G NP_001395436.1:p.Leu573Arg missense NM_001408508.1:c.1709T>G NP_001395437.1:p.Leu570Arg missense NM_001408509.1:c.1706T>G NP_001395438.1:p.Leu569Arg missense NM_001408510.1:c.1667T>G NP_001395439.1:p.Leu556Arg missense NM_001408511.1:c.1664T>G NP_001395440.1:p.Leu555Arg missense NM_001408512.1:c.1544T>G NP_001395441.1:p.Leu515Arg missense NM_001408513.1:c.1517T>G NP_001395442.1:p.Leu506Arg missense NM_001408514.1:c.1121T>G NP_001395443.1:p.Leu374Arg missense NM_007297.4:c.5216T>G NP_009228.2:p.Leu1739Arg missense NM_007298.4:c.2045T>G NP_009229.2:p.Leu682Arg missense NM_007299.4:c.2021-1467T>G intron variant NM_007300.4:c.5420T>G NP_009231.2:p.Leu1807Arg missense NM_007304.2:c.2045T>G NP_009235.2:p.Leu682Arg missense NR_027676.2:n.5534T>G non-coding transcript variant NC_000017.11:g.43049170A>C NC_000017.10:g.41201187A>C NG_005905.2:g.168814T>G LRG_292:g.168814T>G LRG_292t1:c.5357T>G LRG_292p1:p.Leu1786Arg - Protein change
- L1739R, L1786R, L1807R, L682R, L1617R, L1632R, L1657R, L1673R, L1696R, L1716R, L1759R, L1806R, L374R, L506R, L515R, L569R, L612R, L638R, L640R, L656R, L679R, L681R, L1489R, L1674R, L1737R, L1744R, L1760R, L1766R, L1767R, L1782R, L1784R, L1785R, L555R, L574R, L595R, L601R, L603R, L611R, L615R, L634R, L642R, L643R, L658R, L918R, L1697R, L1715R, L1718R, L1719R, L1742R, L1743R, L1745R, L1758R, L1783R, L1808R, L570R, L573R, L613R, L635R, L636R, L641R, L680R, L705R, L917R, L1490R, L1658R, L1659R, L1675R, L1698R, L1714R, L1717R, L1738R, L1781R, L556R, L593R, L594R, L616R, L644R, L657R, L683R, L704R
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049169:A:C
-
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.5357T>G, a MISSENSE variant, produced a function score of -0.15, 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
|
- | RCV001072781.3 |
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: SCV001238227.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.151024584442163
|
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: SCV001238227.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5357T>G, a MISSENSE variant, produced a function score of -0.15, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5357T>G, a MISSENSE variant, produced a function score of -0.15, 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 rs398122697 ...
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.