ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5351T>G (p.Val1784Gly)
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.5351T>G (p.Val1784Gly)
Variation ID: 868028 Accession: VCV000868028.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049176 (GRCh38) [ NCBI UCSC ] 17: 41201193 (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.5351T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1784Gly missense NM_001407571.1:c.5138T>G NP_001394500.1:p.Val1713Gly missense NM_001407581.1:c.5417T>G NP_001394510.1:p.Val1806Gly missense NM_001407582.1:c.5417T>G NP_001394511.1:p.Val1806Gly missense NM_001407583.1:c.5414T>G NP_001394512.1:p.Val1805Gly missense NM_001407585.1:c.5414T>G NP_001394514.1:p.Val1805Gly missense NM_001407587.1:c.5414T>G NP_001394516.1:p.Val1805Gly missense NM_001407590.1:c.5411T>G NP_001394519.1:p.Val1804Gly missense NM_001407591.1:c.5411T>G NP_001394520.1:p.Val1804Gly missense NM_001407593.1:c.5351T>G NP_001394522.1:p.Val1784Gly missense NM_001407594.1:c.5351T>G NP_001394523.1:p.Val1784Gly missense NM_001407596.1:c.5351T>G NP_001394525.1:p.Val1784Gly missense NM_001407597.1:c.5351T>G NP_001394526.1:p.Val1784Gly missense NM_001407598.1:c.5351T>G NP_001394527.1:p.Val1784Gly missense NM_001407602.1:c.5351T>G NP_001394531.1:p.Val1784Gly missense NM_001407603.1:c.5351T>G NP_001394532.1:p.Val1784Gly missense NM_001407605.1:c.5351T>G NP_001394534.1:p.Val1784Gly missense NM_001407610.1:c.5348T>G NP_001394539.1:p.Val1783Gly missense NM_001407611.1:c.5348T>G NP_001394540.1:p.Val1783Gly missense NM_001407612.1:c.5348T>G NP_001394541.1:p.Val1783Gly missense NM_001407613.1:c.5348T>G NP_001394542.1:p.Val1783Gly missense NM_001407614.1:c.5348T>G NP_001394543.1:p.Val1783Gly missense NM_001407615.1:c.5348T>G NP_001394544.1:p.Val1783Gly missense NM_001407616.1:c.5348T>G NP_001394545.1:p.Val1783Gly missense NM_001407617.1:c.5348T>G NP_001394546.1:p.Val1783Gly missense NM_001407618.1:c.5348T>G NP_001394547.1:p.Val1783Gly missense NM_001407619.1:c.5348T>G NP_001394548.1:p.Val1783Gly missense NM_001407620.1:c.5348T>G NP_001394549.1:p.Val1783Gly missense NM_001407621.1:c.5348T>G NP_001394550.1:p.Val1783Gly missense NM_001407622.1:c.5348T>G NP_001394551.1:p.Val1783Gly missense NM_001407623.1:c.5348T>G NP_001394552.1:p.Val1783Gly missense NM_001407624.1:c.5348T>G NP_001394553.1:p.Val1783Gly missense NM_001407625.1:c.5348T>G NP_001394554.1:p.Val1783Gly missense NM_001407626.1:c.5348T>G NP_001394555.1:p.Val1783Gly missense NM_001407627.1:c.5345T>G NP_001394556.1:p.Val1782Gly missense NM_001407628.1:c.5345T>G NP_001394557.1:p.Val1782Gly missense NM_001407629.1:c.5345T>G NP_001394558.1:p.Val1782Gly missense NM_001407630.1:c.5345T>G NP_001394559.1:p.Val1782Gly missense NM_001407631.1:c.5345T>G NP_001394560.1:p.Val1782Gly missense NM_001407632.1:c.5345T>G NP_001394561.1:p.Val1782Gly missense NM_001407633.1:c.5345T>G NP_001394562.1:p.Val1782Gly missense NM_001407634.1:c.5345T>G NP_001394563.1:p.Val1782Gly missense NM_001407635.1:c.5345T>G NP_001394564.1:p.Val1782Gly missense NM_001407636.1:c.5345T>G NP_001394565.1:p.Val1782Gly missense NM_001407637.1:c.5345T>G NP_001394566.1:p.Val1782Gly missense NM_001407638.1:c.5345T>G NP_001394567.1:p.Val1782Gly missense NM_001407639.1:c.5345T>G NP_001394568.1:p.Val1782Gly missense NM_001407640.1:c.5345T>G NP_001394569.1:p.Val1782Gly missense NM_001407641.1:c.5345T>G NP_001394570.1:p.Val1782Gly missense NM_001407642.1:c.5345T>G NP_001394571.1:p.Val1782Gly missense NM_001407644.1:c.5342T>G NP_001394573.1:p.Val1781Gly missense NM_001407645.1:c.5342T>G NP_001394574.1:p.Val1781Gly missense NM_001407646.1:c.5339T>G NP_001394575.1:p.Val1780Gly missense NM_001407647.1:c.5336T>G NP_001394576.1:p.Val1779Gly missense NM_001407648.1:c.5294T>G NP_001394577.1:p.Val1765Gly missense NM_001407649.1:c.5291T>G NP_001394578.1:p.Val1764Gly missense NM_001407652.1:c.5273T>G NP_001394581.1:p.Val1758Gly missense NM_001407653.1:c.5273T>G NP_001394582.1:p.Val1758Gly missense NM_001407654.1:c.5273T>G NP_001394583.1:p.Val1758Gly missense NM_001407655.1:c.5273T>G NP_001394584.1:p.Val1758Gly missense NM_001407656.1:c.5270T>G NP_001394585.1:p.Val1757Gly missense NM_001407657.1:c.5270T>G NP_001394586.1:p.Val1757Gly missense NM_001407658.1:c.5270T>G NP_001394587.1:p.Val1757Gly missense NM_001407659.1:c.5267T>G NP_001394588.1:p.Val1756Gly missense NM_001407660.1:c.5267T>G NP_001394589.1:p.Val1756Gly missense NM_001407661.1:c.5267T>G NP_001394590.1:p.Val1756Gly missense NM_001407662.1:c.5267T>G NP_001394591.1:p.Val1756Gly missense NM_001407663.1:c.5267T>G NP_001394592.1:p.Val1756Gly missense NM_001407664.1:c.5228T>G NP_001394593.1:p.Val1743Gly missense NM_001407665.1:c.5228T>G NP_001394594.1:p.Val1743Gly missense NM_001407666.1:c.5228T>G NP_001394595.1:p.Val1743Gly missense NM_001407667.1:c.5228T>G NP_001394596.1:p.Val1743Gly missense NM_001407668.1:c.5228T>G NP_001394597.1:p.Val1743Gly missense NM_001407669.1:c.5228T>G NP_001394598.1:p.Val1743Gly missense NM_001407670.1:c.5225T>G NP_001394599.1:p.Val1742Gly missense NM_001407671.1:c.5225T>G NP_001394600.1:p.Val1742Gly missense NM_001407672.1:c.5225T>G NP_001394601.1:p.Val1742Gly missense NM_001407673.1:c.5225T>G NP_001394602.1:p.Val1742Gly missense NM_001407674.1:c.5225T>G NP_001394603.1:p.Val1742Gly missense NM_001407675.1:c.5225T>G NP_001394604.1:p.Val1742Gly missense NM_001407676.1:c.5225T>G NP_001394605.1:p.Val1742Gly missense NM_001407677.1:c.5225T>G NP_001394606.1:p.Val1742Gly missense NM_001407678.1:c.5225T>G NP_001394607.1:p.Val1742Gly missense NM_001407679.1:c.5225T>G NP_001394608.1:p.Val1742Gly missense NM_001407680.1:c.5225T>G NP_001394609.1:p.Val1742Gly missense NM_001407681.1:c.5222T>G NP_001394610.1:p.Val1741Gly missense NM_001407682.1:c.5222T>G NP_001394611.1:p.Val1741Gly missense NM_001407683.1:c.5222T>G NP_001394612.1:p.Val1741Gly missense NM_001407685.1:c.5222T>G NP_001394614.1:p.Val1741Gly missense NM_001407686.1:c.5222T>G NP_001394615.1:p.Val1741Gly missense NM_001407687.1:c.5222T>G NP_001394616.1:p.Val1741Gly missense NM_001407688.1:c.5222T>G NP_001394617.1:p.Val1741Gly missense NM_001407689.1:c.5222T>G NP_001394618.1:p.Val1741Gly missense NM_001407690.1:c.5219T>G NP_001394619.1:p.Val1740Gly missense NM_001407691.1:c.5219T>G NP_001394620.1:p.Val1740Gly missense NM_001407692.1:c.5210T>G NP_001394621.1:p.Val1737Gly missense NM_001407694.1:c.5210T>G NP_001394623.1:p.Val1737Gly missense NM_001407695.1:c.5210T>G NP_001394624.1:p.Val1737Gly missense NM_001407696.1:c.5210T>G NP_001394625.1:p.Val1737Gly missense NM_001407697.1:c.5210T>G NP_001394626.1:p.Val1737Gly missense NM_001407698.1:c.5210T>G NP_001394627.1:p.Val1737Gly missense NM_001407724.1:c.5210T>G NP_001394653.1:p.Val1737Gly missense NM_001407725.1:c.5210T>G NP_001394654.1:p.Val1737Gly missense NM_001407726.1:c.5210T>G NP_001394655.1:p.Val1737Gly missense NM_001407727.1:c.5210T>G NP_001394656.1:p.Val1737Gly missense NM_001407728.1:c.5210T>G NP_001394657.1:p.Val1737Gly missense NM_001407729.1:c.5210T>G NP_001394658.1:p.Val1737Gly missense NM_001407730.1:c.5210T>G NP_001394659.1:p.Val1737Gly missense NM_001407731.1:c.5210T>G NP_001394660.1:p.Val1737Gly missense NM_001407732.1:c.5207T>G NP_001394661.1:p.Val1736Gly missense NM_001407733.1:c.5207T>G NP_001394662.1:p.Val1736Gly missense NM_001407734.1:c.5207T>G NP_001394663.1:p.Val1736Gly missense NM_001407735.1:c.5207T>G NP_001394664.1:p.Val1736Gly missense NM_001407736.1:c.5207T>G NP_001394665.1:p.Val1736Gly missense NM_001407737.1:c.5207T>G NP_001394666.1:p.Val1736Gly missense NM_001407738.1:c.5207T>G NP_001394667.1:p.Val1736Gly missense NM_001407739.1:c.5207T>G NP_001394668.1:p.Val1736Gly missense NM_001407740.1:c.5207T>G NP_001394669.1:p.Val1736Gly missense NM_001407741.1:c.5207T>G NP_001394670.1:p.Val1736Gly missense NM_001407742.1:c.5207T>G NP_001394671.1:p.Val1736Gly missense NM_001407743.1:c.5207T>G NP_001394672.1:p.Val1736Gly missense NM_001407744.1:c.5207T>G NP_001394673.1:p.Val1736Gly missense NM_001407745.1:c.5207T>G NP_001394674.1:p.Val1736Gly missense NM_001407746.1:c.5207T>G NP_001394675.1:p.Val1736Gly missense NM_001407747.1:c.5207T>G NP_001394676.1:p.Val1736Gly missense NM_001407748.1:c.5207T>G NP_001394677.1:p.Val1736Gly missense NM_001407749.1:c.5207T>G NP_001394678.1:p.Val1736Gly missense NM_001407750.1:c.5207T>G NP_001394679.1:p.Val1736Gly missense NM_001407751.1:c.5207T>G NP_001394680.1:p.Val1736Gly missense NM_001407752.1:c.5207T>G NP_001394681.1:p.Val1736Gly missense NM_001407838.1:c.5204T>G NP_001394767.1:p.Val1735Gly missense NM_001407839.1:c.5204T>G NP_001394768.1:p.Val1735Gly missense NM_001407841.1:c.5204T>G NP_001394770.1:p.Val1735Gly missense NM_001407842.1:c.5204T>G NP_001394771.1:p.Val1735Gly missense NM_001407843.1:c.5204T>G NP_001394772.1:p.Val1735Gly missense NM_001407844.1:c.5204T>G NP_001394773.1:p.Val1735Gly missense NM_001407845.1:c.5204T>G NP_001394774.1:p.Val1735Gly missense NM_001407846.1:c.5204T>G NP_001394775.1:p.Val1735Gly missense NM_001407847.1:c.5204T>G NP_001394776.1:p.Val1735Gly missense NM_001407848.1:c.5204T>G NP_001394777.1:p.Val1735Gly missense NM_001407849.1:c.5204T>G NP_001394778.1:p.Val1735Gly missense NM_001407850.1:c.5204T>G NP_001394779.1:p.Val1735Gly missense NM_001407851.1:c.5204T>G NP_001394780.1:p.Val1735Gly missense NM_001407852.1:c.5204T>G NP_001394781.1:p.Val1735Gly missense NM_001407853.1:c.5204T>G NP_001394782.1:p.Val1735Gly missense NM_001407862.1:c.5150T>G NP_001394791.1:p.Val1717Gly missense NM_001407863.1:c.5147T>G NP_001394792.1:p.Val1716Gly missense NM_001407874.1:c.5144T>G NP_001394803.1:p.Val1715Gly missense NM_001407875.1:c.5144T>G NP_001394804.1:p.Val1715Gly missense NM_001407879.1:c.5141T>G NP_001394808.1:p.Val1714Gly missense NM_001407881.1:c.5141T>G NP_001394810.1:p.Val1714Gly missense NM_001407882.1:c.5141T>G NP_001394811.1:p.Val1714Gly missense NM_001407884.1:c.5141T>G NP_001394813.1:p.Val1714Gly missense NM_001407885.1:c.5141T>G NP_001394814.1:p.Val1714Gly missense NM_001407886.1:c.5141T>G NP_001394815.1:p.Val1714Gly missense NM_001407887.1:c.5141T>G NP_001394816.1:p.Val1714Gly missense NM_001407889.1:c.5141T>G NP_001394818.1:p.Val1714Gly missense NM_001407894.1:c.5138T>G NP_001394823.1:p.Val1713Gly missense NM_001407895.1:c.5138T>G NP_001394824.1:p.Val1713Gly missense NM_001407896.1:c.5138T>G NP_001394825.1:p.Val1713Gly missense NM_001407897.1:c.5138T>G NP_001394826.1:p.Val1713Gly missense NM_001407898.1:c.5138T>G NP_001394827.1:p.Val1713Gly missense NM_001407899.1:c.5138T>G NP_001394828.1:p.Val1713Gly missense NM_001407900.1:c.5138T>G NP_001394829.1:p.Val1713Gly missense NM_001407902.1:c.5138T>G NP_001394831.1:p.Val1713Gly missense NM_001407904.1:c.5138T>G NP_001394833.1:p.Val1713Gly missense NM_001407906.1:c.5138T>G NP_001394835.1:p.Val1713Gly missense NM_001407907.1:c.5138T>G NP_001394836.1:p.Val1713Gly missense NM_001407908.1:c.5138T>G NP_001394837.1:p.Val1713Gly missense NM_001407909.1:c.5138T>G NP_001394838.1:p.Val1713Gly missense NM_001407910.1:c.5138T>G NP_001394839.1:p.Val1713Gly missense NM_001407915.1:c.5135T>G NP_001394844.1:p.Val1712Gly missense NM_001407916.1:c.5135T>G NP_001394845.1:p.Val1712Gly missense NM_001407917.1:c.5135T>G NP_001394846.1:p.Val1712Gly missense NM_001407918.1:c.5135T>G NP_001394847.1:p.Val1712Gly missense NM_001407920.1:c.5087T>G NP_001394849.1:p.Val1696Gly missense NM_001407921.1:c.5087T>G NP_001394850.1:p.Val1696Gly missense NM_001407922.1:c.5087T>G NP_001394851.1:p.Val1696Gly missense NM_001407923.1:c.5087T>G NP_001394852.1:p.Val1696Gly missense NM_001407924.1:c.5087T>G NP_001394853.1:p.Val1696Gly missense NM_001407925.1:c.5087T>G NP_001394854.1:p.Val1696Gly missense NM_001407926.1:c.5087T>G NP_001394855.1:p.Val1696Gly missense NM_001407927.1:c.5084T>G NP_001394856.1:p.Val1695Gly missense NM_001407928.1:c.5084T>G NP_001394857.1:p.Val1695Gly missense NM_001407929.1:c.5084T>G NP_001394858.1:p.Val1695Gly missense NM_001407930.1:c.5084T>G NP_001394859.1:p.Val1695Gly missense NM_001407931.1:c.5084T>G NP_001394860.1:p.Val1695Gly missense NM_001407932.1:c.5084T>G NP_001394861.1:p.Val1695Gly missense NM_001407933.1:c.5084T>G NP_001394862.1:p.Val1695Gly missense NM_001407934.1:c.5081T>G NP_001394863.1:p.Val1694Gly missense NM_001407935.1:c.5081T>G NP_001394864.1:p.Val1694Gly missense NM_001407936.1:c.5081T>G NP_001394865.1:p.Val1694Gly missense NM_001407946.1:c.5018T>G NP_001394875.1:p.Val1673Gly missense NM_001407947.1:c.5018T>G NP_001394876.1:p.Val1673Gly missense NM_001407948.1:c.5018T>G NP_001394877.1:p.Val1673Gly missense NM_001407949.1:c.5018T>G NP_001394878.1:p.Val1673Gly missense NM_001407950.1:c.5015T>G NP_001394879.1:p.Val1672Gly missense NM_001407951.1:c.5015T>G NP_001394880.1:p.Val1672Gly missense NM_001407952.1:c.5015T>G NP_001394881.1:p.Val1672Gly missense NM_001407953.1:c.5015T>G NP_001394882.1:p.Val1672Gly missense NM_001407954.1:c.5015T>G NP_001394883.1:p.Val1672Gly missense NM_001407955.1:c.5015T>G NP_001394884.1:p.Val1672Gly missense NM_001407956.1:c.5012T>G NP_001394885.1:p.Val1671Gly missense NM_001407957.1:c.5012T>G NP_001394886.1:p.Val1671Gly missense NM_001407958.1:c.5012T>G NP_001394887.1:p.Val1671Gly missense NM_001407959.1:c.4970T>G NP_001394888.1:p.Val1657Gly missense NM_001407960.1:c.4967T>G NP_001394889.1:p.Val1656Gly missense NM_001407962.1:c.4967T>G NP_001394891.1:p.Val1656Gly missense NM_001407963.1:c.4964T>G NP_001394892.1:p.Val1655Gly missense NM_001407964.1:c.4889T>G NP_001394893.1:p.Val1630Gly missense NM_001407965.1:c.4844T>G NP_001394894.1:p.Val1615Gly missense NM_001407966.1:c.4463T>G NP_001394895.1:p.Val1488Gly missense NM_001407967.1:c.4460T>G NP_001394896.1:p.Val1487Gly missense NM_001407968.1:c.2747T>G NP_001394897.1:p.Val916Gly missense NM_001407969.1:c.2744T>G NP_001394898.1:p.Val915Gly missense NM_001407970.1:c.2108T>G NP_001394899.1:p.Val703Gly missense NM_001407971.1:c.2108T>G NP_001394900.1:p.Val703Gly missense NM_001407972.1:c.2105T>G NP_001394901.1:p.Val702Gly missense NM_001407973.1:c.2042T>G NP_001394902.1:p.Val681Gly missense NM_001407974.1:c.2042T>G NP_001394903.1:p.Val681Gly missense NM_001407975.1:c.2042T>G NP_001394904.1:p.Val681Gly missense NM_001407976.1:c.2042T>G NP_001394905.1:p.Val681Gly missense NM_001407977.1:c.2042T>G NP_001394906.1:p.Val681Gly missense NM_001407978.1:c.2042T>G NP_001394907.1:p.Val681Gly missense NM_001407979.1:c.2039T>G NP_001394908.1:p.Val680Gly missense NM_001407980.1:c.2039T>G NP_001394909.1:p.Val680Gly missense NM_001407981.1:c.2039T>G NP_001394910.1:p.Val680Gly missense NM_001407982.1:c.2039T>G NP_001394911.1:p.Val680Gly missense NM_001407983.1:c.2039T>G NP_001394912.1:p.Val680Gly missense NM_001407984.1:c.2039T>G NP_001394913.1:p.Val680Gly missense NM_001407985.1:c.2039T>G NP_001394914.1:p.Val680Gly missense NM_001407986.1:c.2039T>G NP_001394915.1:p.Val680Gly missense NM_001407990.1:c.2039T>G NP_001394919.1:p.Val680Gly missense NM_001407991.1:c.2039T>G NP_001394920.1:p.Val680Gly missense NM_001407992.1:c.2039T>G NP_001394921.1:p.Val680Gly missense NM_001407993.1:c.2039T>G NP_001394922.1:p.Val680Gly missense NM_001408392.1:c.2036T>G NP_001395321.1:p.Val679Gly missense NM_001408396.1:c.2036T>G NP_001395325.1:p.Val679Gly missense NM_001408397.1:c.2036T>G NP_001395326.1:p.Val679Gly missense NM_001408398.1:c.2036T>G NP_001395327.1:p.Val679Gly missense NM_001408399.1:c.2036T>G NP_001395328.1:p.Val679Gly missense NM_001408400.1:c.2036T>G NP_001395329.1:p.Val679Gly missense NM_001408401.1:c.2036T>G NP_001395330.1:p.Val679Gly missense NM_001408402.1:c.2036T>G NP_001395331.1:p.Val679Gly missense NM_001408403.1:c.2036T>G NP_001395332.1:p.Val679Gly missense NM_001408404.1:c.2036T>G NP_001395333.1:p.Val679Gly missense NM_001408406.1:c.2033T>G NP_001395335.1:p.Val678Gly missense NM_001408407.1:c.2033T>G NP_001395336.1:p.Val678Gly missense NM_001408408.1:c.2033T>G NP_001395337.1:p.Val678Gly missense NM_001408409.1:c.2030T>G NP_001395338.1:p.Val677Gly missense NM_001408410.1:c.1967T>G NP_001395339.1:p.Val656Gly missense NM_001408411.1:c.1964T>G NP_001395340.1:p.Val655Gly missense NM_001408412.1:c.1961T>G NP_001395341.1:p.Val654Gly missense NM_001408413.1:c.1961T>G NP_001395342.1:p.Val654Gly missense NM_001408414.1:c.1961T>G NP_001395343.1:p.Val654Gly missense NM_001408415.1:c.1961T>G NP_001395344.1:p.Val654Gly missense NM_001408416.1:c.1961T>G NP_001395345.1:p.Val654Gly missense NM_001408418.1:c.1925T>G NP_001395347.1:p.Val642Gly missense NM_001408419.1:c.1925T>G NP_001395348.1:p.Val642Gly missense NM_001408420.1:c.1925T>G NP_001395349.1:p.Val642Gly missense NM_001408421.1:c.1922T>G NP_001395350.1:p.Val641Gly missense NM_001408422.1:c.1922T>G NP_001395351.1:p.Val641Gly missense NM_001408423.1:c.1922T>G NP_001395352.1:p.Val641Gly missense NM_001408424.1:c.1922T>G NP_001395353.1:p.Val641Gly missense NM_001408425.1:c.1919T>G NP_001395354.1:p.Val640Gly missense NM_001408426.1:c.1919T>G NP_001395355.1:p.Val640Gly missense NM_001408427.1:c.1919T>G NP_001395356.1:p.Val640Gly missense NM_001408428.1:c.1919T>G NP_001395357.1:p.Val640Gly missense NM_001408429.1:c.1919T>G NP_001395358.1:p.Val640Gly missense NM_001408430.1:c.1919T>G NP_001395359.1:p.Val640Gly missense NM_001408431.1:c.1919T>G NP_001395360.1:p.Val640Gly missense NM_001408432.1:c.1916T>G NP_001395361.1:p.Val639Gly missense NM_001408433.1:c.1916T>G NP_001395362.1:p.Val639Gly missense NM_001408434.1:c.1916T>G NP_001395363.1:p.Val639Gly missense NM_001408435.1:c.1916T>G NP_001395364.1:p.Val639Gly missense NM_001408436.1:c.1916T>G NP_001395365.1:p.Val639Gly missense NM_001408437.1:c.1916T>G NP_001395366.1:p.Val639Gly missense NM_001408438.1:c.1916T>G NP_001395367.1:p.Val639Gly missense NM_001408439.1:c.1916T>G NP_001395368.1:p.Val639Gly missense NM_001408440.1:c.1916T>G NP_001395369.1:p.Val639Gly missense NM_001408441.1:c.1916T>G NP_001395370.1:p.Val639Gly missense NM_001408442.1:c.1916T>G NP_001395371.1:p.Val639Gly missense NM_001408443.1:c.1916T>G NP_001395372.1:p.Val639Gly missense NM_001408444.1:c.1916T>G NP_001395373.1:p.Val639Gly missense NM_001408445.1:c.1913T>G NP_001395374.1:p.Val638Gly missense NM_001408446.1:c.1913T>G NP_001395375.1:p.Val638Gly missense NM_001408447.1:c.1913T>G NP_001395376.1:p.Val638Gly missense NM_001408448.1:c.1913T>G NP_001395377.1:p.Val638Gly missense NM_001408450.1:c.1913T>G NP_001395379.1:p.Val638Gly missense NM_001408451.1:c.1907T>G NP_001395380.1:p.Val636Gly missense NM_001408452.1:c.1901T>G NP_001395381.1:p.Val634Gly missense NM_001408453.1:c.1901T>G NP_001395382.1:p.Val634Gly missense NM_001408454.1:c.1901T>G NP_001395383.1:p.Val634Gly missense NM_001408455.1:c.1901T>G NP_001395384.1:p.Val634Gly missense NM_001408456.1:c.1901T>G NP_001395385.1:p.Val634Gly missense NM_001408457.1:c.1901T>G NP_001395386.1:p.Val634Gly missense NM_001408458.1:c.1898T>G NP_001395387.1:p.Val633Gly missense NM_001408459.1:c.1898T>G NP_001395388.1:p.Val633Gly missense NM_001408460.1:c.1898T>G NP_001395389.1:p.Val633Gly missense NM_001408461.1:c.1898T>G NP_001395390.1:p.Val633Gly missense NM_001408462.1:c.1898T>G NP_001395391.1:p.Val633Gly missense NM_001408463.1:c.1898T>G NP_001395392.1:p.Val633Gly missense NM_001408464.1:c.1898T>G NP_001395393.1:p.Val633Gly missense NM_001408465.1:c.1898T>G NP_001395394.1:p.Val633Gly missense NM_001408466.1:c.1898T>G NP_001395395.1:p.Val633Gly missense NM_001408467.1:c.1898T>G NP_001395396.1:p.Val633Gly missense NM_001408468.1:c.1895T>G NP_001395397.1:p.Val632Gly missense NM_001408469.1:c.1895T>G NP_001395398.1:p.Val632Gly missense NM_001408470.1:c.1895T>G NP_001395399.1:p.Val632Gly missense NM_001408474.1:c.1841T>G NP_001395403.1:p.Val614Gly missense NM_001408475.1:c.1838T>G NP_001395404.1:p.Val613Gly missense NM_001408476.1:c.1838T>G NP_001395405.1:p.Val613Gly missense NM_001408478.1:c.1832T>G NP_001395407.1:p.Val611Gly missense NM_001408479.1:c.1832T>G NP_001395408.1:p.Val611Gly missense NM_001408480.1:c.1832T>G NP_001395409.1:p.Val611Gly missense NM_001408481.1:c.1829T>G NP_001395410.1:p.Val610Gly missense NM_001408482.1:c.1829T>G NP_001395411.1:p.Val610Gly missense NM_001408483.1:c.1829T>G NP_001395412.1:p.Val610Gly missense NM_001408484.1:c.1829T>G NP_001395413.1:p.Val610Gly missense NM_001408485.1:c.1829T>G NP_001395414.1:p.Val610Gly missense NM_001408489.1:c.1829T>G NP_001395418.1:p.Val610Gly missense NM_001408490.1:c.1829T>G NP_001395419.1:p.Val610Gly missense NM_001408491.1:c.1829T>G NP_001395420.1:p.Val610Gly missense NM_001408492.1:c.1826T>G NP_001395421.1:p.Val609Gly missense NM_001408493.1:c.1826T>G NP_001395422.1:p.Val609Gly missense NM_001408494.1:c.1802T>G NP_001395423.1:p.Val601Gly missense NM_001408495.1:c.1796T>G NP_001395424.1:p.Val599Gly missense NM_001408496.1:c.1778T>G NP_001395425.1:p.Val593Gly missense NM_001408497.1:c.1778T>G NP_001395426.1:p.Val593Gly missense NM_001408498.1:c.1778T>G NP_001395427.1:p.Val593Gly missense NM_001408499.1:c.1778T>G NP_001395428.1:p.Val593Gly missense NM_001408500.1:c.1778T>G NP_001395429.1:p.Val593Gly missense NM_001408501.1:c.1778T>G NP_001395430.1:p.Val593Gly missense NM_001408502.1:c.1775T>G NP_001395431.1:p.Val592Gly missense NM_001408503.1:c.1775T>G NP_001395432.1:p.Val592Gly missense NM_001408504.1:c.1775T>G NP_001395433.1:p.Val592Gly missense NM_001408505.1:c.1772T>G NP_001395434.1:p.Val591Gly missense NM_001408506.1:c.1715T>G NP_001395435.1:p.Val572Gly missense NM_001408507.1:c.1712T>G NP_001395436.1:p.Val571Gly missense NM_001408508.1:c.1703T>G NP_001395437.1:p.Val568Gly missense NM_001408509.1:c.1700T>G NP_001395438.1:p.Val567Gly missense NM_001408510.1:c.1661T>G NP_001395439.1:p.Val554Gly missense NM_001408511.1:c.1658T>G NP_001395440.1:p.Val553Gly missense NM_001408512.1:c.1538T>G NP_001395441.1:p.Val513Gly missense NM_001408513.1:c.1511T>G NP_001395442.1:p.Val504Gly missense NM_001408514.1:c.1115T>G NP_001395443.1:p.Val372Gly missense NM_007297.4:c.5210T>G NP_009228.2:p.Val1737Gly missense NM_007298.4:c.2039T>G NP_009229.2:p.Val680Gly missense NM_007299.4:c.2021-1473T>G intron variant NM_007300.4:c.5414T>G NP_009231.2:p.Val1805Gly missense NM_007304.2:c.2039T>G NP_009235.2:p.Val680Gly missense NR_027676.2:n.5528T>G non-coding transcript variant NC_000017.11:g.43049176A>C NC_000017.10:g.41201193A>C NG_005905.2:g.168808T>G LRG_292:g.168808T>G LRG_292t1:c.5351T>G LRG_292p1:p.Val1784Gly - Protein change
- V1737G, V1805G, V1784G, V680G, V1630G, V1655G, V1656G, V1673G, V1713G, V1715G, V1740G, V1741G, V1743G, V1758G, V1804G, V504G, V513G, V599G, V609G, V610G, V634G, V636G, V638G, V656G, V677G, V702G, V915G, V1695G, V1712G, V1716G, V1717G, V1735G, V1756G, V1765G, V1781G, V1783G, V553G, V568G, V572G, V592G, V593G, V601G, V633G, V639G, V655G, V1488G, V1615G, V1694G, V1764G, V1780G, V372G, V554G, V571G, V591G, V611G, V613G, V640G, V641G, V654G, V678G, V679G, V1487G, V1657G, V1671G, V1672G, V1696G, V1714G, V1736G, V1742G, V1757G, V1779G, V1782G, V1806G, V567G, V614G, V632G, V642G, V681G, V703G, V916G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43049175: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.5351T>G, a MISSENSE variant, produced a function score of -0.48, 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
|
- | RCV001076837.3 |
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: SCV001242667.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.482147505219213
|
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: SCV001242667.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5351T>G, a MISSENSE variant, produced a function score of -0.48, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5351T>G, a MISSENSE variant, produced a function score of -0.48, 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 rs1367077331 ...
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.