ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5375T>G (p.Val1792Gly)
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.5375T>G (p.Val1792Gly)
Variation ID: 868391 Accession: VCV000868391.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049152 (GRCh38) [ NCBI UCSC ] 17: 41201169 (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.5375T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1792Gly missense NM_001407571.1:c.5162T>G NP_001394500.1:p.Val1721Gly missense NM_001407581.1:c.5441T>G NP_001394510.1:p.Val1814Gly missense NM_001407582.1:c.5441T>G NP_001394511.1:p.Val1814Gly missense NM_001407583.1:c.5438T>G NP_001394512.1:p.Val1813Gly missense NM_001407585.1:c.5438T>G NP_001394514.1:p.Val1813Gly missense NM_001407587.1:c.5438T>G NP_001394516.1:p.Val1813Gly missense NM_001407590.1:c.5435T>G NP_001394519.1:p.Val1812Gly missense NM_001407591.1:c.5435T>G NP_001394520.1:p.Val1812Gly missense NM_001407593.1:c.5375T>G NP_001394522.1:p.Val1792Gly missense NM_001407594.1:c.5375T>G NP_001394523.1:p.Val1792Gly missense NM_001407596.1:c.5375T>G NP_001394525.1:p.Val1792Gly missense NM_001407597.1:c.5375T>G NP_001394526.1:p.Val1792Gly missense NM_001407598.1:c.5375T>G NP_001394527.1:p.Val1792Gly missense NM_001407602.1:c.5375T>G NP_001394531.1:p.Val1792Gly missense NM_001407603.1:c.5375T>G NP_001394532.1:p.Val1792Gly missense NM_001407605.1:c.5375T>G NP_001394534.1:p.Val1792Gly missense NM_001407610.1:c.5372T>G NP_001394539.1:p.Val1791Gly missense NM_001407611.1:c.5372T>G NP_001394540.1:p.Val1791Gly missense NM_001407612.1:c.5372T>G NP_001394541.1:p.Val1791Gly missense NM_001407613.1:c.5372T>G NP_001394542.1:p.Val1791Gly missense NM_001407614.1:c.5372T>G NP_001394543.1:p.Val1791Gly missense NM_001407615.1:c.5372T>G NP_001394544.1:p.Val1791Gly missense NM_001407616.1:c.5372T>G NP_001394545.1:p.Val1791Gly missense NM_001407617.1:c.5372T>G NP_001394546.1:p.Val1791Gly missense NM_001407618.1:c.5372T>G NP_001394547.1:p.Val1791Gly missense NM_001407619.1:c.5372T>G NP_001394548.1:p.Val1791Gly missense NM_001407620.1:c.5372T>G NP_001394549.1:p.Val1791Gly missense NM_001407621.1:c.5372T>G NP_001394550.1:p.Val1791Gly missense NM_001407622.1:c.5372T>G NP_001394551.1:p.Val1791Gly missense NM_001407623.1:c.5372T>G NP_001394552.1:p.Val1791Gly missense NM_001407624.1:c.5372T>G NP_001394553.1:p.Val1791Gly missense NM_001407625.1:c.5372T>G NP_001394554.1:p.Val1791Gly missense NM_001407626.1:c.5372T>G NP_001394555.1:p.Val1791Gly missense NM_001407627.1:c.5369T>G NP_001394556.1:p.Val1790Gly missense NM_001407628.1:c.5369T>G NP_001394557.1:p.Val1790Gly missense NM_001407629.1:c.5369T>G NP_001394558.1:p.Val1790Gly missense NM_001407630.1:c.5369T>G NP_001394559.1:p.Val1790Gly missense NM_001407631.1:c.5369T>G NP_001394560.1:p.Val1790Gly missense NM_001407632.1:c.5369T>G NP_001394561.1:p.Val1790Gly missense NM_001407633.1:c.5369T>G NP_001394562.1:p.Val1790Gly missense NM_001407634.1:c.5369T>G NP_001394563.1:p.Val1790Gly missense NM_001407635.1:c.5369T>G NP_001394564.1:p.Val1790Gly missense NM_001407636.1:c.5369T>G NP_001394565.1:p.Val1790Gly missense NM_001407637.1:c.5369T>G NP_001394566.1:p.Val1790Gly missense NM_001407638.1:c.5369T>G NP_001394567.1:p.Val1790Gly missense NM_001407639.1:c.5369T>G NP_001394568.1:p.Val1790Gly missense NM_001407640.1:c.5369T>G NP_001394569.1:p.Val1790Gly missense NM_001407641.1:c.5369T>G NP_001394570.1:p.Val1790Gly missense NM_001407642.1:c.5369T>G NP_001394571.1:p.Val1790Gly missense NM_001407644.1:c.5366T>G NP_001394573.1:p.Val1789Gly missense NM_001407645.1:c.5366T>G NP_001394574.1:p.Val1789Gly missense NM_001407646.1:c.5363T>G NP_001394575.1:p.Val1788Gly missense NM_001407647.1:c.5360T>G NP_001394576.1:p.Val1787Gly missense NM_001407648.1:c.5318T>G NP_001394577.1:p.Val1773Gly missense NM_001407649.1:c.5315T>G NP_001394578.1:p.Val1772Gly missense NM_001407652.1:c.5297T>G NP_001394581.1:p.Val1766Gly missense NM_001407653.1:c.5297T>G NP_001394582.1:p.Val1766Gly missense NM_001407654.1:c.5297T>G NP_001394583.1:p.Val1766Gly missense NM_001407655.1:c.5297T>G NP_001394584.1:p.Val1766Gly missense NM_001407656.1:c.5294T>G NP_001394585.1:p.Val1765Gly missense NM_001407657.1:c.5294T>G NP_001394586.1:p.Val1765Gly missense NM_001407658.1:c.5294T>G NP_001394587.1:p.Val1765Gly missense NM_001407659.1:c.5291T>G NP_001394588.1:p.Val1764Gly missense NM_001407660.1:c.5291T>G NP_001394589.1:p.Val1764Gly missense NM_001407661.1:c.5291T>G NP_001394590.1:p.Val1764Gly missense NM_001407662.1:c.5291T>G NP_001394591.1:p.Val1764Gly missense NM_001407663.1:c.5291T>G NP_001394592.1:p.Val1764Gly missense NM_001407664.1:c.5252T>G NP_001394593.1:p.Val1751Gly missense NM_001407665.1:c.5252T>G NP_001394594.1:p.Val1751Gly missense NM_001407666.1:c.5252T>G NP_001394595.1:p.Val1751Gly missense NM_001407667.1:c.5252T>G NP_001394596.1:p.Val1751Gly missense NM_001407668.1:c.5252T>G NP_001394597.1:p.Val1751Gly missense NM_001407669.1:c.5252T>G NP_001394598.1:p.Val1751Gly missense NM_001407670.1:c.5249T>G NP_001394599.1:p.Val1750Gly missense NM_001407671.1:c.5249T>G NP_001394600.1:p.Val1750Gly missense NM_001407672.1:c.5249T>G NP_001394601.1:p.Val1750Gly missense NM_001407673.1:c.5249T>G NP_001394602.1:p.Val1750Gly missense NM_001407674.1:c.5249T>G NP_001394603.1:p.Val1750Gly missense NM_001407675.1:c.5249T>G NP_001394604.1:p.Val1750Gly missense NM_001407676.1:c.5249T>G NP_001394605.1:p.Val1750Gly missense NM_001407677.1:c.5249T>G NP_001394606.1:p.Val1750Gly missense NM_001407678.1:c.5249T>G NP_001394607.1:p.Val1750Gly missense NM_001407679.1:c.5249T>G NP_001394608.1:p.Val1750Gly missense NM_001407680.1:c.5249T>G NP_001394609.1:p.Val1750Gly missense NM_001407681.1:c.5246T>G NP_001394610.1:p.Val1749Gly missense NM_001407682.1:c.5246T>G NP_001394611.1:p.Val1749Gly missense NM_001407683.1:c.5246T>G NP_001394612.1:p.Val1749Gly missense NM_001407685.1:c.5246T>G NP_001394614.1:p.Val1749Gly missense NM_001407686.1:c.5246T>G NP_001394615.1:p.Val1749Gly missense NM_001407687.1:c.5246T>G NP_001394616.1:p.Val1749Gly missense NM_001407688.1:c.5246T>G NP_001394617.1:p.Val1749Gly missense NM_001407689.1:c.5246T>G NP_001394618.1:p.Val1749Gly missense NM_001407690.1:c.5243T>G NP_001394619.1:p.Val1748Gly missense NM_001407691.1:c.5243T>G NP_001394620.1:p.Val1748Gly missense NM_001407692.1:c.5234T>G NP_001394621.1:p.Val1745Gly missense NM_001407694.1:c.5234T>G NP_001394623.1:p.Val1745Gly missense NM_001407695.1:c.5234T>G NP_001394624.1:p.Val1745Gly missense NM_001407696.1:c.5234T>G NP_001394625.1:p.Val1745Gly missense NM_001407697.1:c.5234T>G NP_001394626.1:p.Val1745Gly missense NM_001407698.1:c.5234T>G NP_001394627.1:p.Val1745Gly missense NM_001407724.1:c.5234T>G NP_001394653.1:p.Val1745Gly missense NM_001407725.1:c.5234T>G NP_001394654.1:p.Val1745Gly missense NM_001407726.1:c.5234T>G NP_001394655.1:p.Val1745Gly missense NM_001407727.1:c.5234T>G NP_001394656.1:p.Val1745Gly missense NM_001407728.1:c.5234T>G NP_001394657.1:p.Val1745Gly missense NM_001407729.1:c.5234T>G NP_001394658.1:p.Val1745Gly missense NM_001407730.1:c.5234T>G NP_001394659.1:p.Val1745Gly missense NM_001407731.1:c.5234T>G NP_001394660.1:p.Val1745Gly missense NM_001407732.1:c.5231T>G NP_001394661.1:p.Val1744Gly missense NM_001407733.1:c.5231T>G NP_001394662.1:p.Val1744Gly missense NM_001407734.1:c.5231T>G NP_001394663.1:p.Val1744Gly missense NM_001407735.1:c.5231T>G NP_001394664.1:p.Val1744Gly missense NM_001407736.1:c.5231T>G NP_001394665.1:p.Val1744Gly missense NM_001407737.1:c.5231T>G NP_001394666.1:p.Val1744Gly missense NM_001407738.1:c.5231T>G NP_001394667.1:p.Val1744Gly missense NM_001407739.1:c.5231T>G NP_001394668.1:p.Val1744Gly missense NM_001407740.1:c.5231T>G NP_001394669.1:p.Val1744Gly missense NM_001407741.1:c.5231T>G NP_001394670.1:p.Val1744Gly missense NM_001407742.1:c.5231T>G NP_001394671.1:p.Val1744Gly missense NM_001407743.1:c.5231T>G NP_001394672.1:p.Val1744Gly missense NM_001407744.1:c.5231T>G NP_001394673.1:p.Val1744Gly missense NM_001407745.1:c.5231T>G NP_001394674.1:p.Val1744Gly missense NM_001407746.1:c.5231T>G NP_001394675.1:p.Val1744Gly missense NM_001407747.1:c.5231T>G NP_001394676.1:p.Val1744Gly missense NM_001407748.1:c.5231T>G NP_001394677.1:p.Val1744Gly missense NM_001407749.1:c.5231T>G NP_001394678.1:p.Val1744Gly missense NM_001407750.1:c.5231T>G NP_001394679.1:p.Val1744Gly missense NM_001407751.1:c.5231T>G NP_001394680.1:p.Val1744Gly missense NM_001407752.1:c.5231T>G NP_001394681.1:p.Val1744Gly missense NM_001407838.1:c.5228T>G NP_001394767.1:p.Val1743Gly missense NM_001407839.1:c.5228T>G NP_001394768.1:p.Val1743Gly missense NM_001407841.1:c.5228T>G NP_001394770.1:p.Val1743Gly missense NM_001407842.1:c.5228T>G NP_001394771.1:p.Val1743Gly missense NM_001407843.1:c.5228T>G NP_001394772.1:p.Val1743Gly missense NM_001407844.1:c.5228T>G NP_001394773.1:p.Val1743Gly missense NM_001407845.1:c.5228T>G NP_001394774.1:p.Val1743Gly missense NM_001407846.1:c.5228T>G NP_001394775.1:p.Val1743Gly missense NM_001407847.1:c.5228T>G NP_001394776.1:p.Val1743Gly missense NM_001407848.1:c.5228T>G NP_001394777.1:p.Val1743Gly missense NM_001407849.1:c.5228T>G NP_001394778.1:p.Val1743Gly missense NM_001407850.1:c.5228T>G NP_001394779.1:p.Val1743Gly missense NM_001407851.1:c.5228T>G NP_001394780.1:p.Val1743Gly missense NM_001407852.1:c.5228T>G NP_001394781.1:p.Val1743Gly missense NM_001407853.1:c.5228T>G NP_001394782.1:p.Val1743Gly missense NM_001407862.1:c.5174T>G NP_001394791.1:p.Val1725Gly missense NM_001407863.1:c.5171T>G NP_001394792.1:p.Val1724Gly missense NM_001407874.1:c.5168T>G NP_001394803.1:p.Val1723Gly missense NM_001407875.1:c.5168T>G NP_001394804.1:p.Val1723Gly missense NM_001407879.1:c.5165T>G NP_001394808.1:p.Val1722Gly missense NM_001407881.1:c.5165T>G NP_001394810.1:p.Val1722Gly missense NM_001407882.1:c.5165T>G NP_001394811.1:p.Val1722Gly missense NM_001407884.1:c.5165T>G NP_001394813.1:p.Val1722Gly missense NM_001407885.1:c.5165T>G NP_001394814.1:p.Val1722Gly missense NM_001407886.1:c.5165T>G NP_001394815.1:p.Val1722Gly missense NM_001407887.1:c.5165T>G NP_001394816.1:p.Val1722Gly missense NM_001407889.1:c.5165T>G NP_001394818.1:p.Val1722Gly missense NM_001407894.1:c.5162T>G NP_001394823.1:p.Val1721Gly missense NM_001407895.1:c.5162T>G NP_001394824.1:p.Val1721Gly missense NM_001407896.1:c.5162T>G NP_001394825.1:p.Val1721Gly missense NM_001407897.1:c.5162T>G NP_001394826.1:p.Val1721Gly missense NM_001407898.1:c.5162T>G NP_001394827.1:p.Val1721Gly missense NM_001407899.1:c.5162T>G NP_001394828.1:p.Val1721Gly missense NM_001407900.1:c.5162T>G NP_001394829.1:p.Val1721Gly missense NM_001407902.1:c.5162T>G NP_001394831.1:p.Val1721Gly missense NM_001407904.1:c.5162T>G NP_001394833.1:p.Val1721Gly missense NM_001407906.1:c.5162T>G NP_001394835.1:p.Val1721Gly missense NM_001407907.1:c.5162T>G NP_001394836.1:p.Val1721Gly missense NM_001407908.1:c.5162T>G NP_001394837.1:p.Val1721Gly missense NM_001407909.1:c.5162T>G NP_001394838.1:p.Val1721Gly missense NM_001407910.1:c.5162T>G NP_001394839.1:p.Val1721Gly missense NM_001407915.1:c.5159T>G NP_001394844.1:p.Val1720Gly missense NM_001407916.1:c.5159T>G NP_001394845.1:p.Val1720Gly missense NM_001407917.1:c.5159T>G NP_001394846.1:p.Val1720Gly missense NM_001407918.1:c.5159T>G NP_001394847.1:p.Val1720Gly missense NM_001407920.1:c.5111T>G NP_001394849.1:p.Val1704Gly missense NM_001407921.1:c.5111T>G NP_001394850.1:p.Val1704Gly missense NM_001407922.1:c.5111T>G NP_001394851.1:p.Val1704Gly missense NM_001407923.1:c.5111T>G NP_001394852.1:p.Val1704Gly missense NM_001407924.1:c.5111T>G NP_001394853.1:p.Val1704Gly missense NM_001407925.1:c.5111T>G NP_001394854.1:p.Val1704Gly missense NM_001407926.1:c.5111T>G NP_001394855.1:p.Val1704Gly missense NM_001407927.1:c.5108T>G NP_001394856.1:p.Val1703Gly missense NM_001407928.1:c.5108T>G NP_001394857.1:p.Val1703Gly missense NM_001407929.1:c.5108T>G NP_001394858.1:p.Val1703Gly missense NM_001407930.1:c.5108T>G NP_001394859.1:p.Val1703Gly missense NM_001407931.1:c.5108T>G NP_001394860.1:p.Val1703Gly missense NM_001407932.1:c.5108T>G NP_001394861.1:p.Val1703Gly missense NM_001407933.1:c.5108T>G NP_001394862.1:p.Val1703Gly missense NM_001407934.1:c.5105T>G NP_001394863.1:p.Val1702Gly missense NM_001407935.1:c.5105T>G NP_001394864.1:p.Val1702Gly missense NM_001407936.1:c.5105T>G NP_001394865.1:p.Val1702Gly missense NM_001407946.1:c.5042T>G NP_001394875.1:p.Val1681Gly missense NM_001407947.1:c.5042T>G NP_001394876.1:p.Val1681Gly missense NM_001407948.1:c.5042T>G NP_001394877.1:p.Val1681Gly missense NM_001407949.1:c.5042T>G NP_001394878.1:p.Val1681Gly missense NM_001407950.1:c.5039T>G NP_001394879.1:p.Val1680Gly missense NM_001407951.1:c.5039T>G NP_001394880.1:p.Val1680Gly missense NM_001407952.1:c.5039T>G NP_001394881.1:p.Val1680Gly missense NM_001407953.1:c.5039T>G NP_001394882.1:p.Val1680Gly missense NM_001407954.1:c.5039T>G NP_001394883.1:p.Val1680Gly missense NM_001407955.1:c.5039T>G NP_001394884.1:p.Val1680Gly missense NM_001407956.1:c.5036T>G NP_001394885.1:p.Val1679Gly missense NM_001407957.1:c.5036T>G NP_001394886.1:p.Val1679Gly missense NM_001407958.1:c.5036T>G NP_001394887.1:p.Val1679Gly missense NM_001407959.1:c.4994T>G NP_001394888.1:p.Val1665Gly missense NM_001407960.1:c.4991T>G NP_001394889.1:p.Val1664Gly missense NM_001407962.1:c.4991T>G NP_001394891.1:p.Val1664Gly missense NM_001407963.1:c.4988T>G NP_001394892.1:p.Val1663Gly missense NM_001407964.1:c.4913T>G NP_001394893.1:p.Val1638Gly missense NM_001407965.1:c.4868T>G NP_001394894.1:p.Val1623Gly missense NM_001407966.1:c.4487T>G NP_001394895.1:p.Val1496Gly missense NM_001407967.1:c.4484T>G NP_001394896.1:p.Val1495Gly missense NM_001407968.1:c.2771T>G NP_001394897.1:p.Val924Gly missense NM_001407969.1:c.2768T>G NP_001394898.1:p.Val923Gly missense NM_001407970.1:c.2132T>G NP_001394899.1:p.Val711Gly missense NM_001407971.1:c.2132T>G NP_001394900.1:p.Val711Gly missense NM_001407972.1:c.2129T>G NP_001394901.1:p.Val710Gly missense NM_001407973.1:c.2066T>G NP_001394902.1:p.Val689Gly missense NM_001407974.1:c.2066T>G NP_001394903.1:p.Val689Gly missense NM_001407975.1:c.2066T>G NP_001394904.1:p.Val689Gly missense NM_001407976.1:c.2066T>G NP_001394905.1:p.Val689Gly missense NM_001407977.1:c.2066T>G NP_001394906.1:p.Val689Gly missense NM_001407978.1:c.2066T>G NP_001394907.1:p.Val689Gly missense NM_001407979.1:c.2063T>G NP_001394908.1:p.Val688Gly missense NM_001407980.1:c.2063T>G NP_001394909.1:p.Val688Gly missense NM_001407981.1:c.2063T>G NP_001394910.1:p.Val688Gly missense NM_001407982.1:c.2063T>G NP_001394911.1:p.Val688Gly missense NM_001407983.1:c.2063T>G NP_001394912.1:p.Val688Gly missense NM_001407984.1:c.2063T>G NP_001394913.1:p.Val688Gly missense NM_001407985.1:c.2063T>G NP_001394914.1:p.Val688Gly missense NM_001407986.1:c.2063T>G NP_001394915.1:p.Val688Gly missense NM_001407990.1:c.2063T>G NP_001394919.1:p.Val688Gly missense NM_001407991.1:c.2063T>G NP_001394920.1:p.Val688Gly missense NM_001407992.1:c.2063T>G NP_001394921.1:p.Val688Gly missense NM_001407993.1:c.2063T>G NP_001394922.1:p.Val688Gly missense NM_001408392.1:c.2060T>G NP_001395321.1:p.Val687Gly missense NM_001408396.1:c.2060T>G NP_001395325.1:p.Val687Gly missense NM_001408397.1:c.2060T>G NP_001395326.1:p.Val687Gly missense NM_001408398.1:c.2060T>G NP_001395327.1:p.Val687Gly missense NM_001408399.1:c.2060T>G NP_001395328.1:p.Val687Gly missense NM_001408400.1:c.2060T>G NP_001395329.1:p.Val687Gly missense NM_001408401.1:c.2060T>G NP_001395330.1:p.Val687Gly missense NM_001408402.1:c.2060T>G NP_001395331.1:p.Val687Gly missense NM_001408403.1:c.2060T>G NP_001395332.1:p.Val687Gly missense NM_001408404.1:c.2060T>G NP_001395333.1:p.Val687Gly missense NM_001408406.1:c.2057T>G NP_001395335.1:p.Val686Gly missense NM_001408407.1:c.2057T>G NP_001395336.1:p.Val686Gly missense NM_001408408.1:c.2057T>G NP_001395337.1:p.Val686Gly missense NM_001408409.1:c.2054T>G NP_001395338.1:p.Val685Gly missense NM_001408410.1:c.1991T>G NP_001395339.1:p.Val664Gly missense NM_001408411.1:c.1988T>G NP_001395340.1:p.Val663Gly missense NM_001408412.1:c.1985T>G NP_001395341.1:p.Val662Gly missense NM_001408413.1:c.1985T>G NP_001395342.1:p.Val662Gly missense NM_001408414.1:c.1985T>G NP_001395343.1:p.Val662Gly missense NM_001408415.1:c.1985T>G NP_001395344.1:p.Val662Gly missense NM_001408416.1:c.1985T>G NP_001395345.1:p.Val662Gly missense NM_001408418.1:c.1949T>G NP_001395347.1:p.Val650Gly missense NM_001408419.1:c.1949T>G NP_001395348.1:p.Val650Gly missense NM_001408420.1:c.1949T>G NP_001395349.1:p.Val650Gly missense NM_001408421.1:c.1946T>G NP_001395350.1:p.Val649Gly missense NM_001408422.1:c.1946T>G NP_001395351.1:p.Val649Gly missense NM_001408423.1:c.1946T>G NP_001395352.1:p.Val649Gly missense NM_001408424.1:c.1946T>G NP_001395353.1:p.Val649Gly missense NM_001408425.1:c.1943T>G NP_001395354.1:p.Val648Gly missense NM_001408426.1:c.1943T>G NP_001395355.1:p.Val648Gly missense NM_001408427.1:c.1943T>G NP_001395356.1:p.Val648Gly missense NM_001408428.1:c.1943T>G NP_001395357.1:p.Val648Gly missense NM_001408429.1:c.1943T>G NP_001395358.1:p.Val648Gly missense NM_001408430.1:c.1943T>G NP_001395359.1:p.Val648Gly missense NM_001408431.1:c.1943T>G NP_001395360.1:p.Val648Gly missense NM_001408432.1:c.1940T>G NP_001395361.1:p.Val647Gly missense NM_001408433.1:c.1940T>G NP_001395362.1:p.Val647Gly missense NM_001408434.1:c.1940T>G NP_001395363.1:p.Val647Gly missense NM_001408435.1:c.1940T>G NP_001395364.1:p.Val647Gly missense NM_001408436.1:c.1940T>G NP_001395365.1:p.Val647Gly missense NM_001408437.1:c.1940T>G NP_001395366.1:p.Val647Gly missense NM_001408438.1:c.1940T>G NP_001395367.1:p.Val647Gly missense NM_001408439.1:c.1940T>G NP_001395368.1:p.Val647Gly missense NM_001408440.1:c.1940T>G NP_001395369.1:p.Val647Gly missense NM_001408441.1:c.1940T>G NP_001395370.1:p.Val647Gly missense NM_001408442.1:c.1940T>G NP_001395371.1:p.Val647Gly missense NM_001408443.1:c.1940T>G NP_001395372.1:p.Val647Gly missense NM_001408444.1:c.1940T>G NP_001395373.1:p.Val647Gly missense NM_001408445.1:c.1937T>G NP_001395374.1:p.Val646Gly missense NM_001408446.1:c.1937T>G NP_001395375.1:p.Val646Gly missense NM_001408447.1:c.1937T>G NP_001395376.1:p.Val646Gly missense NM_001408448.1:c.1937T>G NP_001395377.1:p.Val646Gly missense NM_001408450.1:c.1937T>G NP_001395379.1:p.Val646Gly missense NM_001408451.1:c.1931T>G NP_001395380.1:p.Val644Gly missense NM_001408452.1:c.1925T>G NP_001395381.1:p.Val642Gly missense NM_001408453.1:c.1925T>G NP_001395382.1:p.Val642Gly missense NM_001408454.1:c.1925T>G NP_001395383.1:p.Val642Gly missense NM_001408455.1:c.1925T>G NP_001395384.1:p.Val642Gly missense NM_001408456.1:c.1925T>G NP_001395385.1:p.Val642Gly missense NM_001408457.1:c.1925T>G NP_001395386.1:p.Val642Gly missense NM_001408458.1:c.1922T>G NP_001395387.1:p.Val641Gly missense NM_001408459.1:c.1922T>G NP_001395388.1:p.Val641Gly missense NM_001408460.1:c.1922T>G NP_001395389.1:p.Val641Gly missense NM_001408461.1:c.1922T>G NP_001395390.1:p.Val641Gly missense NM_001408462.1:c.1922T>G NP_001395391.1:p.Val641Gly missense NM_001408463.1:c.1922T>G NP_001395392.1:p.Val641Gly missense NM_001408464.1:c.1922T>G NP_001395393.1:p.Val641Gly missense NM_001408465.1:c.1922T>G NP_001395394.1:p.Val641Gly missense NM_001408466.1:c.1922T>G NP_001395395.1:p.Val641Gly missense NM_001408467.1:c.1922T>G NP_001395396.1:p.Val641Gly missense NM_001408468.1:c.1919T>G NP_001395397.1:p.Val640Gly missense NM_001408469.1:c.1919T>G NP_001395398.1:p.Val640Gly missense NM_001408470.1:c.1919T>G NP_001395399.1:p.Val640Gly missense NM_001408474.1:c.1865T>G NP_001395403.1:p.Val622Gly missense NM_001408475.1:c.1862T>G NP_001395404.1:p.Val621Gly missense NM_001408476.1:c.1862T>G NP_001395405.1:p.Val621Gly missense NM_001408478.1:c.1856T>G NP_001395407.1:p.Val619Gly missense NM_001408479.1:c.1856T>G NP_001395408.1:p.Val619Gly missense NM_001408480.1:c.1856T>G NP_001395409.1:p.Val619Gly missense NM_001408481.1:c.1853T>G NP_001395410.1:p.Val618Gly missense NM_001408482.1:c.1853T>G NP_001395411.1:p.Val618Gly missense NM_001408483.1:c.1853T>G NP_001395412.1:p.Val618Gly missense NM_001408484.1:c.1853T>G NP_001395413.1:p.Val618Gly missense NM_001408485.1:c.1853T>G NP_001395414.1:p.Val618Gly missense NM_001408489.1:c.1853T>G NP_001395418.1:p.Val618Gly missense NM_001408490.1:c.1853T>G NP_001395419.1:p.Val618Gly missense NM_001408491.1:c.1853T>G NP_001395420.1:p.Val618Gly missense NM_001408492.1:c.1850T>G NP_001395421.1:p.Val617Gly missense NM_001408493.1:c.1850T>G NP_001395422.1:p.Val617Gly missense NM_001408494.1:c.1826T>G NP_001395423.1:p.Val609Gly missense NM_001408495.1:c.1820T>G NP_001395424.1:p.Val607Gly missense NM_001408496.1:c.1802T>G NP_001395425.1:p.Val601Gly missense NM_001408497.1:c.1802T>G NP_001395426.1:p.Val601Gly missense NM_001408498.1:c.1802T>G NP_001395427.1:p.Val601Gly missense NM_001408499.1:c.1802T>G NP_001395428.1:p.Val601Gly missense NM_001408500.1:c.1802T>G NP_001395429.1:p.Val601Gly missense NM_001408501.1:c.1802T>G NP_001395430.1:p.Val601Gly missense NM_001408502.1:c.1799T>G NP_001395431.1:p.Val600Gly missense NM_001408503.1:c.1799T>G NP_001395432.1:p.Val600Gly missense NM_001408504.1:c.1799T>G NP_001395433.1:p.Val600Gly missense NM_001408505.1:c.1796T>G NP_001395434.1:p.Val599Gly missense NM_001408506.1:c.1739T>G NP_001395435.1:p.Val580Gly missense NM_001408507.1:c.1736T>G NP_001395436.1:p.Val579Gly missense NM_001408508.1:c.1727T>G NP_001395437.1:p.Val576Gly missense NM_001408509.1:c.1724T>G NP_001395438.1:p.Val575Gly missense NM_001408510.1:c.1685T>G NP_001395439.1:p.Val562Gly missense NM_001408511.1:c.1682T>G NP_001395440.1:p.Val561Gly missense NM_001408512.1:c.1562T>G NP_001395441.1:p.Val521Gly missense NM_001408513.1:c.1535T>G NP_001395442.1:p.Val512Gly missense NM_001408514.1:c.1139T>G NP_001395443.1:p.Val380Gly missense NM_007297.4:c.5234T>G NP_009228.2:p.Val1745Gly missense NM_007298.4:c.2063T>G NP_009229.2:p.Val688Gly missense NM_007299.4:c.2021-1449T>G intron variant NM_007300.4:c.5438T>G NP_009231.2:p.Val1813Gly missense NM_007304.2:c.2063T>G NP_009235.2:p.Val688Gly missense NR_027676.2:n.5552T>G non-coding transcript variant NC_000017.11:g.43049152A>C NC_000017.10:g.41201169A>C NG_005905.2:g.168832T>G LRG_292:g.168832T>G LRG_292t1:c.5375T>G LRG_292p1:p.Val1792Gly - Protein change
- V688G, V1792G, V1813G, V1745G, V1704G, V1720G, V1725G, V1744G, V1748G, V1765G, V1766G, V1773G, V1812G, V512G, V562G, V575G, V576G, V579G, V617G, V621G, V641G, V647G, V648G, V650G, V923G, V1495G, V1638G, V1664G, V1679G, V1681G, V1749G, V1750G, V1772G, V1789G, V1790G, V1791G, V380G, V561G, V600G, V619G, V642G, V664G, V685G, V689G, V1623G, V1663G, V1721G, V1722G, V1723G, V1743G, V1764G, V1787G, V1814G, V580G, V640G, V644G, V646G, V687G, V924G, V1496G, V1665G, V1680G, V1702G, V1703G, V1724G, V1751G, V1788G, V521G, V599G, V601G, V607G, V609G, V618G, V622G, V649G, V662G, V663G, V686G, V710G, V711G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049151: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.5375T>G, a MISSENSE variant, produced a function score of -0.59, 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
|
- | RCV001077285.3 |
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: SCV001243190.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.585138825147941
|
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: SCV001243190.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5375T>G, a MISSENSE variant, produced a function score of -0.59, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5375T>G, a MISSENSE variant, produced a function score of -0.59, 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 rs2051082443 ...
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.