ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly)
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.5513T>G (p.Val1838Gly)
Variation ID: 254643 Accession: VCV000254643.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43045757 (GRCh38) [ NCBI UCSC ] 17: 41197774 (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 Sep 25, 2016 Apr 18, 2020 Jul 1, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5513T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1838Gly missense NM_001407571.1:c.5300T>G NP_001394500.1:p.Val1767Gly missense NM_001407581.1:c.5579T>G NP_001394510.1:p.Val1860Gly missense NM_001407582.1:c.5579T>G NP_001394511.1:p.Val1860Gly missense NM_001407583.1:c.5576T>G NP_001394512.1:p.Val1859Gly missense NM_001407585.1:c.5576T>G NP_001394514.1:p.Val1859Gly missense NM_001407587.1:c.5576T>G NP_001394516.1:p.Val1859Gly missense NM_001407590.1:c.5573T>G NP_001394519.1:p.Val1858Gly missense NM_001407591.1:c.5573T>G NP_001394520.1:p.Val1858Gly missense NM_001407593.1:c.5513T>G NP_001394522.1:p.Val1838Gly missense NM_001407594.1:c.5513T>G NP_001394523.1:p.Val1838Gly missense NM_001407596.1:c.5513T>G NP_001394525.1:p.Val1838Gly missense NM_001407597.1:c.5513T>G NP_001394526.1:p.Val1838Gly missense NM_001407598.1:c.5513T>G NP_001394527.1:p.Val1838Gly missense NM_001407602.1:c.5513T>G NP_001394531.1:p.Val1838Gly missense NM_001407603.1:c.5513T>G NP_001394532.1:p.Val1838Gly missense NM_001407605.1:c.5513T>G NP_001394534.1:p.Val1838Gly missense NM_001407610.1:c.5510T>G NP_001394539.1:p.Val1837Gly missense NM_001407611.1:c.5510T>G NP_001394540.1:p.Val1837Gly missense NM_001407612.1:c.5510T>G NP_001394541.1:p.Val1837Gly missense NM_001407613.1:c.5510T>G NP_001394542.1:p.Val1837Gly missense NM_001407614.1:c.5510T>G NP_001394543.1:p.Val1837Gly missense NM_001407615.1:c.5510T>G NP_001394544.1:p.Val1837Gly missense NM_001407616.1:c.5510T>G NP_001394545.1:p.Val1837Gly missense NM_001407617.1:c.5510T>G NP_001394546.1:p.Val1837Gly missense NM_001407618.1:c.5510T>G NP_001394547.1:p.Val1837Gly missense NM_001407619.1:c.5510T>G NP_001394548.1:p.Val1837Gly missense NM_001407620.1:c.5510T>G NP_001394549.1:p.Val1837Gly missense NM_001407621.1:c.5510T>G NP_001394550.1:p.Val1837Gly missense NM_001407622.1:c.5510T>G NP_001394551.1:p.Val1837Gly missense NM_001407623.1:c.5510T>G NP_001394552.1:p.Val1837Gly missense NM_001407624.1:c.5510T>G NP_001394553.1:p.Val1837Gly missense NM_001407625.1:c.5510T>G NP_001394554.1:p.Val1837Gly missense NM_001407626.1:c.5510T>G NP_001394555.1:p.Val1837Gly missense NM_001407627.1:c.5507T>G NP_001394556.1:p.Val1836Gly missense NM_001407628.1:c.5507T>G NP_001394557.1:p.Val1836Gly missense NM_001407629.1:c.5507T>G NP_001394558.1:p.Val1836Gly missense NM_001407630.1:c.5507T>G NP_001394559.1:p.Val1836Gly missense NM_001407631.1:c.5507T>G NP_001394560.1:p.Val1836Gly missense NM_001407632.1:c.5507T>G NP_001394561.1:p.Val1836Gly missense NM_001407633.1:c.5507T>G NP_001394562.1:p.Val1836Gly missense NM_001407634.1:c.5507T>G NP_001394563.1:p.Val1836Gly missense NM_001407635.1:c.5507T>G NP_001394564.1:p.Val1836Gly missense NM_001407636.1:c.5507T>G NP_001394565.1:p.Val1836Gly missense NM_001407637.1:c.5507T>G NP_001394566.1:p.Val1836Gly missense NM_001407638.1:c.5507T>G NP_001394567.1:p.Val1836Gly missense NM_001407639.1:c.5507T>G NP_001394568.1:p.Val1836Gly missense NM_001407640.1:c.5507T>G NP_001394569.1:p.Val1836Gly missense NM_001407641.1:c.5507T>G NP_001394570.1:p.Val1836Gly missense NM_001407642.1:c.5507T>G NP_001394571.1:p.Val1836Gly missense NM_001407644.1:c.5504T>G NP_001394573.1:p.Val1835Gly missense NM_001407645.1:c.5504T>G NP_001394574.1:p.Val1835Gly missense NM_001407646.1:c.5501T>G NP_001394575.1:p.Val1834Gly missense NM_001407647.1:c.5498T>G NP_001394576.1:p.Val1833Gly missense NM_001407648.1:c.5456T>G NP_001394577.1:p.Val1819Gly missense NM_001407649.1:c.5453T>G NP_001394578.1:p.Val1818Gly missense NM_001407652.1:c.5435T>G NP_001394581.1:p.Val1812Gly missense NM_001407653.1:c.5435T>G NP_001394582.1:p.Val1812Gly missense NM_001407654.1:c.5435T>G NP_001394583.1:p.Val1812Gly missense NM_001407655.1:c.5435T>G NP_001394584.1:p.Val1812Gly missense NM_001407656.1:c.5432T>G NP_001394585.1:p.Val1811Gly missense NM_001407657.1:c.5432T>G NP_001394586.1:p.Val1811Gly missense NM_001407658.1:c.5432T>G NP_001394587.1:p.Val1811Gly missense NM_001407659.1:c.5429T>G NP_001394588.1:p.Val1810Gly missense NM_001407660.1:c.5429T>G NP_001394589.1:p.Val1810Gly missense NM_001407661.1:c.5429T>G NP_001394590.1:p.Val1810Gly missense NM_001407662.1:c.5429T>G NP_001394591.1:p.Val1810Gly missense NM_001407663.1:c.5429T>G NP_001394592.1:p.Val1810Gly missense NM_001407664.1:c.5390T>G NP_001394593.1:p.Val1797Gly missense NM_001407665.1:c.5390T>G NP_001394594.1:p.Val1797Gly missense NM_001407666.1:c.5390T>G NP_001394595.1:p.Val1797Gly missense NM_001407667.1:c.5390T>G NP_001394596.1:p.Val1797Gly missense NM_001407668.1:c.5390T>G NP_001394597.1:p.Val1797Gly missense NM_001407669.1:c.5390T>G NP_001394598.1:p.Val1797Gly missense NM_001407670.1:c.5387T>G NP_001394599.1:p.Val1796Gly missense NM_001407671.1:c.5387T>G NP_001394600.1:p.Val1796Gly missense NM_001407672.1:c.5387T>G NP_001394601.1:p.Val1796Gly missense NM_001407673.1:c.5387T>G NP_001394602.1:p.Val1796Gly missense NM_001407674.1:c.5387T>G NP_001394603.1:p.Val1796Gly missense NM_001407675.1:c.5387T>G NP_001394604.1:p.Val1796Gly missense NM_001407676.1:c.5387T>G NP_001394605.1:p.Val1796Gly missense NM_001407677.1:c.5387T>G NP_001394606.1:p.Val1796Gly missense NM_001407678.1:c.5387T>G NP_001394607.1:p.Val1796Gly missense NM_001407679.1:c.5387T>G NP_001394608.1:p.Val1796Gly missense NM_001407680.1:c.5387T>G NP_001394609.1:p.Val1796Gly missense NM_001407681.1:c.5384T>G NP_001394610.1:p.Val1795Gly missense NM_001407682.1:c.5384T>G NP_001394611.1:p.Val1795Gly missense NM_001407683.1:c.5384T>G NP_001394612.1:p.Val1795Gly missense NM_001407684.1:c.5384T>G NP_001394613.1:p.Val1795Gly missense NM_001407685.1:c.5384T>G NP_001394614.1:p.Val1795Gly missense NM_001407686.1:c.5384T>G NP_001394615.1:p.Val1795Gly missense NM_001407687.1:c.5384T>G NP_001394616.1:p.Val1795Gly missense NM_001407688.1:c.5384T>G NP_001394617.1:p.Val1795Gly missense NM_001407689.1:c.5384T>G NP_001394618.1:p.Val1795Gly missense NM_001407690.1:c.5381T>G NP_001394619.1:p.Val1794Gly missense NM_001407691.1:c.5381T>G NP_001394620.1:p.Val1794Gly missense NM_001407692.1:c.5372T>G NP_001394621.1:p.Val1791Gly missense NM_001407694.1:c.5372T>G NP_001394623.1:p.Val1791Gly missense NM_001407695.1:c.5372T>G NP_001394624.1:p.Val1791Gly missense NM_001407696.1:c.5372T>G NP_001394625.1:p.Val1791Gly missense NM_001407697.1:c.5372T>G NP_001394626.1:p.Val1791Gly missense NM_001407698.1:c.5372T>G NP_001394627.1:p.Val1791Gly missense NM_001407724.1:c.5372T>G NP_001394653.1:p.Val1791Gly missense NM_001407725.1:c.5372T>G NP_001394654.1:p.Val1791Gly missense NM_001407726.1:c.5372T>G NP_001394655.1:p.Val1791Gly missense NM_001407727.1:c.5372T>G NP_001394656.1:p.Val1791Gly missense NM_001407728.1:c.5372T>G NP_001394657.1:p.Val1791Gly missense NM_001407729.1:c.5372T>G NP_001394658.1:p.Val1791Gly missense NM_001407730.1:c.5372T>G NP_001394659.1:p.Val1791Gly missense NM_001407731.1:c.5372T>G NP_001394660.1:p.Val1791Gly missense NM_001407732.1:c.5369T>G NP_001394661.1:p.Val1790Gly missense NM_001407733.1:c.5369T>G NP_001394662.1:p.Val1790Gly missense NM_001407734.1:c.5369T>G NP_001394663.1:p.Val1790Gly missense NM_001407735.1:c.5369T>G NP_001394664.1:p.Val1790Gly missense NM_001407736.1:c.5369T>G NP_001394665.1:p.Val1790Gly missense NM_001407737.1:c.5369T>G NP_001394666.1:p.Val1790Gly missense NM_001407738.1:c.5369T>G NP_001394667.1:p.Val1790Gly missense NM_001407739.1:c.5369T>G NP_001394668.1:p.Val1790Gly missense NM_001407740.1:c.5369T>G NP_001394669.1:p.Val1790Gly missense NM_001407741.1:c.5369T>G NP_001394670.1:p.Val1790Gly missense NM_001407742.1:c.5369T>G NP_001394671.1:p.Val1790Gly missense NM_001407743.1:c.5369T>G NP_001394672.1:p.Val1790Gly missense NM_001407744.1:c.5369T>G NP_001394673.1:p.Val1790Gly missense NM_001407745.1:c.5369T>G NP_001394674.1:p.Val1790Gly missense NM_001407746.1:c.5369T>G NP_001394675.1:p.Val1790Gly missense NM_001407747.1:c.5369T>G NP_001394676.1:p.Val1790Gly missense NM_001407748.1:c.5369T>G NP_001394677.1:p.Val1790Gly missense NM_001407749.1:c.5369T>G NP_001394678.1:p.Val1790Gly missense NM_001407750.1:c.5369T>G NP_001394679.1:p.Val1790Gly missense NM_001407751.1:c.5369T>G NP_001394680.1:p.Val1790Gly missense NM_001407752.1:c.5369T>G NP_001394681.1:p.Val1790Gly missense NM_001407838.1:c.5366T>G NP_001394767.1:p.Val1789Gly missense NM_001407839.1:c.5366T>G NP_001394768.1:p.Val1789Gly missense NM_001407841.1:c.5366T>G NP_001394770.1:p.Val1789Gly missense NM_001407842.1:c.5366T>G NP_001394771.1:p.Val1789Gly missense NM_001407843.1:c.5366T>G NP_001394772.1:p.Val1789Gly missense NM_001407844.1:c.5366T>G NP_001394773.1:p.Val1789Gly missense NM_001407845.1:c.5366T>G NP_001394774.1:p.Val1789Gly missense NM_001407846.1:c.5366T>G NP_001394775.1:p.Val1789Gly missense NM_001407847.1:c.5366T>G NP_001394776.1:p.Val1789Gly missense NM_001407848.1:c.5366T>G NP_001394777.1:p.Val1789Gly missense NM_001407849.1:c.5366T>G NP_001394778.1:p.Val1789Gly missense NM_001407850.1:c.5366T>G NP_001394779.1:p.Val1789Gly missense NM_001407851.1:c.5366T>G NP_001394780.1:p.Val1789Gly missense NM_001407852.1:c.5366T>G NP_001394781.1:p.Val1789Gly missense NM_001407853.1:c.5366T>G NP_001394782.1:p.Val1789Gly missense NM_001407854.1:c.*27T>G NM_001407858.1:c.*27T>G NM_001407859.1:c.*27T>G NM_001407860.1:c.*27T>G NM_001407861.1:c.*27T>G NM_001407862.1:c.5312T>G NP_001394791.1:p.Val1771Gly missense NM_001407863.1:c.5309T>G NP_001394792.1:p.Val1770Gly missense NM_001407874.1:c.5306T>G NP_001394803.1:p.Val1769Gly missense NM_001407875.1:c.5306T>G NP_001394804.1:p.Val1769Gly missense NM_001407879.1:c.5303T>G NP_001394808.1:p.Val1768Gly missense NM_001407881.1:c.5303T>G NP_001394810.1:p.Val1768Gly missense NM_001407882.1:c.5303T>G NP_001394811.1:p.Val1768Gly missense NM_001407884.1:c.5303T>G NP_001394813.1:p.Val1768Gly missense NM_001407885.1:c.5303T>G NP_001394814.1:p.Val1768Gly missense NM_001407886.1:c.5303T>G NP_001394815.1:p.Val1768Gly missense NM_001407887.1:c.5303T>G NP_001394816.1:p.Val1768Gly missense NM_001407889.1:c.5303T>G NP_001394818.1:p.Val1768Gly missense NM_001407894.1:c.5300T>G NP_001394823.1:p.Val1767Gly missense NM_001407895.1:c.5300T>G NP_001394824.1:p.Val1767Gly missense NM_001407896.1:c.5300T>G NP_001394825.1:p.Val1767Gly missense NM_001407897.1:c.5300T>G NP_001394826.1:p.Val1767Gly missense NM_001407898.1:c.5300T>G NP_001394827.1:p.Val1767Gly missense NM_001407899.1:c.5300T>G NP_001394828.1:p.Val1767Gly missense NM_001407900.1:c.5300T>G NP_001394829.1:p.Val1767Gly missense NM_001407902.1:c.5300T>G NP_001394831.1:p.Val1767Gly missense NM_001407904.1:c.5300T>G NP_001394833.1:p.Val1767Gly missense NM_001407906.1:c.5300T>G NP_001394835.1:p.Val1767Gly missense NM_001407907.1:c.5300T>G NP_001394836.1:p.Val1767Gly missense NM_001407908.1:c.5300T>G NP_001394837.1:p.Val1767Gly missense NM_001407909.1:c.5300T>G NP_001394838.1:p.Val1767Gly missense NM_001407910.1:c.5300T>G NP_001394839.1:p.Val1767Gly missense NM_001407915.1:c.5297T>G NP_001394844.1:p.Val1766Gly missense NM_001407916.1:c.5297T>G NP_001394845.1:p.Val1766Gly missense NM_001407917.1:c.5297T>G NP_001394846.1:p.Val1766Gly missense NM_001407918.1:c.5297T>G NP_001394847.1:p.Val1766Gly missense NM_001407919.1:c.5261T>G NP_001394848.1:p.Val1754Gly missense NM_001407920.1:c.5249T>G NP_001394849.1:p.Val1750Gly missense NM_001407921.1:c.5249T>G NP_001394850.1:p.Val1750Gly missense NM_001407922.1:c.5249T>G NP_001394851.1:p.Val1750Gly missense NM_001407923.1:c.5249T>G NP_001394852.1:p.Val1750Gly missense NM_001407924.1:c.5249T>G NP_001394853.1:p.Val1750Gly missense NM_001407925.1:c.5249T>G NP_001394854.1:p.Val1750Gly missense NM_001407926.1:c.5249T>G NP_001394855.1:p.Val1750Gly missense NM_001407927.1:c.5246T>G NP_001394856.1:p.Val1749Gly missense NM_001407928.1:c.5246T>G NP_001394857.1:p.Val1749Gly missense NM_001407929.1:c.5246T>G NP_001394858.1:p.Val1749Gly missense NM_001407930.1:c.5246T>G NP_001394859.1:p.Val1749Gly missense NM_001407931.1:c.5246T>G NP_001394860.1:p.Val1749Gly missense NM_001407932.1:c.5246T>G NP_001394861.1:p.Val1749Gly missense NM_001407933.1:c.5246T>G NP_001394862.1:p.Val1749Gly missense NM_001407934.1:c.5243T>G NP_001394863.1:p.Val1748Gly missense NM_001407935.1:c.5243T>G NP_001394864.1:p.Val1748Gly missense NM_001407936.1:c.5243T>G NP_001394865.1:p.Val1748Gly missense NM_001407937.1:c.*27T>G NM_001407938.1:c.*27T>G NM_001407939.1:c.*27T>G NM_001407940.1:c.*27T>G NM_001407941.1:c.*27T>G NM_001407942.1:c.*27T>G NM_001407943.1:c.*27T>G NM_001407944.1:c.*27T>G NM_001407945.1:c.*27T>G NM_001407946.1:c.5180T>G NP_001394875.1:p.Val1727Gly missense NM_001407947.1:c.5180T>G NP_001394876.1:p.Val1727Gly missense NM_001407948.1:c.5180T>G NP_001394877.1:p.Val1727Gly missense NM_001407949.1:c.5180T>G NP_001394878.1:p.Val1727Gly missense NM_001407950.1:c.5177T>G NP_001394879.1:p.Val1726Gly missense NM_001407951.1:c.5177T>G NP_001394880.1:p.Val1726Gly missense NM_001407952.1:c.5177T>G NP_001394881.1:p.Val1726Gly missense NM_001407953.1:c.5177T>G NP_001394882.1:p.Val1726Gly missense NM_001407954.1:c.5177T>G NP_001394883.1:p.Val1726Gly missense NM_001407955.1:c.5177T>G NP_001394884.1:p.Val1726Gly missense NM_001407956.1:c.5174T>G NP_001394885.1:p.Val1725Gly missense NM_001407957.1:c.5174T>G NP_001394886.1:p.Val1725Gly missense NM_001407958.1:c.5174T>G NP_001394887.1:p.Val1725Gly missense NM_001407959.1:c.5132T>G NP_001394888.1:p.Val1711Gly missense NM_001407960.1:c.5129T>G NP_001394889.1:p.Val1710Gly missense NM_001407962.1:c.5129T>G NP_001394891.1:p.Val1710Gly missense NM_001407963.1:c.5126T>G NP_001394892.1:p.Val1709Gly missense NM_001407964.1:c.5051T>G NP_001394893.1:p.Val1684Gly missense NM_001407965.1:c.5006T>G NP_001394894.1:p.Val1669Gly missense NM_001407966.1:c.4625T>G NP_001394895.1:p.Val1542Gly missense NM_001407967.1:c.4622T>G NP_001394896.1:p.Val1541Gly missense NM_001407968.1:c.2909T>G NP_001394897.1:p.Val970Gly missense NM_001407969.1:c.2906T>G NP_001394898.1:p.Val969Gly missense NM_001407970.1:c.2270T>G NP_001394899.1:p.Val757Gly missense NM_001407971.1:c.2270T>G NP_001394900.1:p.Val757Gly missense NM_001407972.1:c.2267T>G NP_001394901.1:p.Val756Gly missense NM_001407973.1:c.2204T>G NP_001394902.1:p.Val735Gly missense NM_001407974.1:c.2204T>G NP_001394903.1:p.Val735Gly missense NM_001407975.1:c.2204T>G NP_001394904.1:p.Val735Gly missense NM_001407976.1:c.2204T>G NP_001394905.1:p.Val735Gly missense NM_001407977.1:c.2204T>G NP_001394906.1:p.Val735Gly missense NM_001407978.1:c.2204T>G NP_001394907.1:p.Val735Gly missense NM_001407979.1:c.2201T>G NP_001394908.1:p.Val734Gly missense NM_001407980.1:c.2201T>G NP_001394909.1:p.Val734Gly missense NM_001407981.1:c.2201T>G NP_001394910.1:p.Val734Gly missense NM_001407982.1:c.2201T>G NP_001394911.1:p.Val734Gly missense NM_001407983.1:c.2201T>G NP_001394912.1:p.Val734Gly missense NM_001407984.1:c.2201T>G NP_001394913.1:p.Val734Gly missense NM_001407985.1:c.2201T>G NP_001394914.1:p.Val734Gly missense NM_001407986.1:c.2201T>G NP_001394915.1:p.Val734Gly missense NM_001407990.1:c.2201T>G NP_001394919.1:p.Val734Gly missense NM_001407991.1:c.2201T>G NP_001394920.1:p.Val734Gly missense NM_001407992.1:c.2201T>G NP_001394921.1:p.Val734Gly missense NM_001407993.1:c.2201T>G NP_001394922.1:p.Val734Gly missense NM_001408392.1:c.2198T>G NP_001395321.1:p.Val733Gly missense NM_001408396.1:c.2198T>G NP_001395325.1:p.Val733Gly missense NM_001408397.1:c.2198T>G NP_001395326.1:p.Val733Gly missense NM_001408398.1:c.2198T>G NP_001395327.1:p.Val733Gly missense NM_001408399.1:c.2198T>G NP_001395328.1:p.Val733Gly missense NM_001408400.1:c.2198T>G NP_001395329.1:p.Val733Gly missense NM_001408401.1:c.2198T>G NP_001395330.1:p.Val733Gly missense NM_001408402.1:c.2198T>G NP_001395331.1:p.Val733Gly missense NM_001408403.1:c.2198T>G NP_001395332.1:p.Val733Gly missense NM_001408404.1:c.2198T>G NP_001395333.1:p.Val733Gly missense NM_001408406.1:c.2195T>G NP_001395335.1:p.Val732Gly missense NM_001408407.1:c.2195T>G NP_001395336.1:p.Val732Gly missense NM_001408408.1:c.2195T>G NP_001395337.1:p.Val732Gly missense NM_001408409.1:c.2192T>G NP_001395338.1:p.Val731Gly missense NM_001408410.1:c.2129T>G NP_001395339.1:p.Val710Gly missense NM_001408411.1:c.2126T>G NP_001395340.1:p.Val709Gly missense NM_001408412.1:c.2123T>G NP_001395341.1:p.Val708Gly missense NM_001408413.1:c.2123T>G NP_001395342.1:p.Val708Gly missense NM_001408414.1:c.2123T>G NP_001395343.1:p.Val708Gly missense NM_001408415.1:c.2123T>G NP_001395344.1:p.Val708Gly missense NM_001408416.1:c.2123T>G NP_001395345.1:p.Val708Gly missense NM_001408418.1:c.2087T>G NP_001395347.1:p.Val696Gly missense NM_001408419.1:c.2087T>G NP_001395348.1:p.Val696Gly missense NM_001408420.1:c.2087T>G NP_001395349.1:p.Val696Gly missense NM_001408421.1:c.2084T>G NP_001395350.1:p.Val695Gly missense NM_001408422.1:c.2084T>G NP_001395351.1:p.Val695Gly missense NM_001408423.1:c.2084T>G NP_001395352.1:p.Val695Gly missense NM_001408424.1:c.2084T>G NP_001395353.1:p.Val695Gly missense NM_001408425.1:c.2081T>G NP_001395354.1:p.Val694Gly missense NM_001408426.1:c.2081T>G NP_001395355.1:p.Val694Gly missense NM_001408427.1:c.2081T>G NP_001395356.1:p.Val694Gly missense NM_001408428.1:c.2081T>G NP_001395357.1:p.Val694Gly missense NM_001408429.1:c.2081T>G NP_001395358.1:p.Val694Gly missense NM_001408430.1:c.2081T>G NP_001395359.1:p.Val694Gly missense NM_001408431.1:c.2081T>G NP_001395360.1:p.Val694Gly missense NM_001408432.1:c.2078T>G NP_001395361.1:p.Val693Gly missense NM_001408433.1:c.2078T>G NP_001395362.1:p.Val693Gly missense NM_001408434.1:c.2078T>G NP_001395363.1:p.Val693Gly missense NM_001408435.1:c.2078T>G NP_001395364.1:p.Val693Gly missense NM_001408436.1:c.2078T>G NP_001395365.1:p.Val693Gly missense NM_001408437.1:c.2078T>G NP_001395366.1:p.Val693Gly missense NM_001408438.1:c.2078T>G NP_001395367.1:p.Val693Gly missense NM_001408439.1:c.2078T>G NP_001395368.1:p.Val693Gly missense NM_001408440.1:c.2078T>G NP_001395369.1:p.Val693Gly missense NM_001408441.1:c.2078T>G NP_001395370.1:p.Val693Gly missense NM_001408442.1:c.2078T>G NP_001395371.1:p.Val693Gly missense NM_001408443.1:c.2078T>G NP_001395372.1:p.Val693Gly missense NM_001408444.1:c.2078T>G NP_001395373.1:p.Val693Gly missense NM_001408445.1:c.2075T>G NP_001395374.1:p.Val692Gly missense NM_001408446.1:c.2075T>G NP_001395375.1:p.Val692Gly missense NM_001408447.1:c.2075T>G NP_001395376.1:p.Val692Gly missense NM_001408448.1:c.2075T>G NP_001395377.1:p.Val692Gly missense NM_001408450.1:c.2075T>G NP_001395379.1:p.Val692Gly missense NM_001408451.1:c.2069T>G NP_001395380.1:p.Val690Gly missense NM_001408452.1:c.2063T>G NP_001395381.1:p.Val688Gly missense NM_001408453.1:c.2063T>G NP_001395382.1:p.Val688Gly missense NM_001408454.1:c.2063T>G NP_001395383.1:p.Val688Gly missense NM_001408455.1:c.2063T>G NP_001395384.1:p.Val688Gly missense NM_001408456.1:c.2063T>G NP_001395385.1:p.Val688Gly missense NM_001408457.1:c.2063T>G NP_001395386.1:p.Val688Gly missense NM_001408458.1:c.2060T>G NP_001395387.1:p.Val687Gly missense NM_001408459.1:c.2060T>G NP_001395388.1:p.Val687Gly missense NM_001408460.1:c.2060T>G NP_001395389.1:p.Val687Gly missense NM_001408461.1:c.2060T>G NP_001395390.1:p.Val687Gly missense NM_001408462.1:c.2060T>G NP_001395391.1:p.Val687Gly missense NM_001408463.1:c.2060T>G NP_001395392.1:p.Val687Gly missense NM_001408464.1:c.2060T>G NP_001395393.1:p.Val687Gly missense NM_001408465.1:c.2060T>G NP_001395394.1:p.Val687Gly missense NM_001408466.1:c.2060T>G NP_001395395.1:p.Val687Gly missense NM_001408467.1:c.2060T>G NP_001395396.1:p.Val687Gly missense NM_001408468.1:c.2057T>G NP_001395397.1:p.Val686Gly missense NM_001408469.1:c.2057T>G NP_001395398.1:p.Val686Gly missense NM_001408470.1:c.2057T>G NP_001395399.1:p.Val686Gly missense NM_001408472.1:c.*27T>G NM_001408473.1:c.*27T>G NM_001408474.1:c.2003T>G NP_001395403.1:p.Val668Gly missense NM_001408475.1:c.2000T>G NP_001395404.1:p.Val667Gly missense NM_001408476.1:c.2000T>G NP_001395405.1:p.Val667Gly missense NM_001408478.1:c.1994T>G NP_001395407.1:p.Val665Gly missense NM_001408479.1:c.1994T>G NP_001395408.1:p.Val665Gly missense NM_001408480.1:c.1994T>G NP_001395409.1:p.Val665Gly missense NM_001408481.1:c.1991T>G NP_001395410.1:p.Val664Gly missense NM_001408482.1:c.1991T>G NP_001395411.1:p.Val664Gly missense NM_001408483.1:c.1991T>G NP_001395412.1:p.Val664Gly missense NM_001408484.1:c.1991T>G NP_001395413.1:p.Val664Gly missense NM_001408485.1:c.1991T>G NP_001395414.1:p.Val664Gly missense NM_001408489.1:c.1991T>G NP_001395418.1:p.Val664Gly missense NM_001408490.1:c.1991T>G NP_001395419.1:p.Val664Gly missense NM_001408491.1:c.1991T>G NP_001395420.1:p.Val664Gly missense NM_001408492.1:c.1988T>G NP_001395421.1:p.Val663Gly missense NM_001408493.1:c.1988T>G NP_001395422.1:p.Val663Gly missense NM_001408494.1:c.1964T>G NP_001395423.1:p.Val655Gly missense NM_001408495.1:c.1958T>G NP_001395424.1:p.Val653Gly missense NM_001408496.1:c.1940T>G NP_001395425.1:p.Val647Gly missense NM_001408497.1:c.1940T>G NP_001395426.1:p.Val647Gly missense NM_001408498.1:c.1940T>G NP_001395427.1:p.Val647Gly missense NM_001408499.1:c.1940T>G NP_001395428.1:p.Val647Gly missense NM_001408500.1:c.1940T>G NP_001395429.1:p.Val647Gly missense NM_001408501.1:c.1940T>G NP_001395430.1:p.Val647Gly missense NM_001408502.1:c.1937T>G NP_001395431.1:p.Val646Gly missense NM_001408503.1:c.1937T>G NP_001395432.1:p.Val646Gly missense NM_001408504.1:c.1937T>G NP_001395433.1:p.Val646Gly missense NM_001408505.1:c.1934T>G NP_001395434.1:p.Val645Gly missense NM_001408506.1:c.1877T>G NP_001395435.1:p.Val626Gly missense NM_001408507.1:c.1874T>G NP_001395436.1:p.Val625Gly missense NM_001408508.1:c.1865T>G NP_001395437.1:p.Val622Gly missense NM_001408509.1:c.1862T>G NP_001395438.1:p.Val621Gly missense NM_001408510.1:c.1823T>G NP_001395439.1:p.Val608Gly missense NM_001408511.1:c.1820T>G NP_001395440.1:p.Val607Gly missense NM_001408512.1:c.1700T>G NP_001395441.1:p.Val567Gly missense NM_001408513.1:c.1673T>G NP_001395442.1:p.Val558Gly missense NM_001408514.1:c.1277T>G NP_001395443.1:p.Val426Gly missense NM_007297.4:c.5372T>G NP_009228.2:p.Val1791Gly missense NM_007298.4:c.2201T>G NP_009229.2:p.Val734Gly missense NM_007299.4:c.*27T>G 3 prime UTR NM_007300.4:c.5576T>G NP_009231.2:p.Val1859Gly missense NM_007304.2:c.2201T>G NP_009235.2:p.Val734Gly missense NR_027676.2:n.5690T>G non-coding transcript variant NC_000017.11:g.43045757A>C NC_000017.10:g.41197774A>C NG_005905.2:g.172227T>G LRG_292:g.172227T>G LRG_292t1:c.5513T>G LRG_292p1:p.Val1838Gly - Protein change
- V1838G, V1859G, V1791G, V734G, V1711G, V1726G, V1748G, V1767G, V1768G, V1790G, V1810G, V1811G, V1833G, V1858G, V1860G, V426G, V622G, V645G, V655G, V688G, V690G, V695G, V696G, V709G, V710G, V733G, V970G, V1669G, V1754G, V1770G, V1771G, V1797G, V1812G, V1836G, V607G, V621G, V647G, V692G, V694G, V731G, V1542G, V1684G, V1709G, V1749G, V1750G, V1789G, V1794G, V1795G, V1819G, V1834G, V626G, V664G, V667G, V668G, V708G, V757G, V969G, V1541G, V1710G, V1725G, V1727G, V1766G, V1769G, V1796G, V1818G, V1835G, V1837G, V558G, V567G, V608G, V625G, V646G, V653G, V663G, V665G, V686G, V687G, V693G, V732G, V735G, V756G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43045756:A:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5513T>G, a MISSENSE variant, produced a function score of -1.98, corresponding to a functional classification of LOSS_OF_FUNCTION. 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.
-
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 |
12795 | 14565 |
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. |
---|---|---|---|---|
Likely pathogenic (3) |
criteria provided, single submitter
|
Jul 1, 2015 | RCV000241502.3 |
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. |
|
---|---|---|---|---|---|
Likely pathogenic
(Jul 01, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000564325.1
First in ClinVar: Sep 25, 2016 Last updated: Sep 25, 2016 |
Number of individuals with the variant: 13
|
|
Uncertain significance
(May 01, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
|
Department of Medical Genetics, University Hospital of North Norway
Accession: SCV000301441.1
First in ClinVar: Sep 25, 2016 Last updated: Sep 25, 2016 |
Number of individuals with the variant: 1
|
|
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: SCV001237607.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.97991531767534
|
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_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001237607.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5513T>G, a MISSENSE variant, produced a function score of -1.98, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5513T>G, a MISSENSE variant, produced a function score of -1.98, corresponding to a functional classification of LOSS_OF_FUNCTION. 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
HelpTitle | 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 rs80357107 ...
HelpRecord last updated Mar 30, 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.