ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.5363G>T (p.Gly1788Val)
Variation ID: 37660 Accession: VCV000037660.28
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43049164 (GRCh38) [ NCBI UCSC ] 17: 41201181 (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 1, 2014 May 1, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.5363G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1788Val missense NM_001407571.1:c.5150G>T NP_001394500.1:p.Gly1717Val missense NM_001407581.1:c.5429G>T NP_001394510.1:p.Gly1810Val missense NM_001407582.1:c.5429G>T NP_001394511.1:p.Gly1810Val missense NM_001407583.1:c.5426G>T NP_001394512.1:p.Gly1809Val missense NM_001407585.1:c.5426G>T NP_001394514.1:p.Gly1809Val missense NM_001407587.1:c.5426G>T NP_001394516.1:p.Gly1809Val missense NM_001407590.1:c.5423G>T NP_001394519.1:p.Gly1808Val missense NM_001407591.1:c.5423G>T NP_001394520.1:p.Gly1808Val missense NM_001407593.1:c.5363G>T NP_001394522.1:p.Gly1788Val missense NM_001407594.1:c.5363G>T NP_001394523.1:p.Gly1788Val missense NM_001407596.1:c.5363G>T NP_001394525.1:p.Gly1788Val missense NM_001407597.1:c.5363G>T NP_001394526.1:p.Gly1788Val missense NM_001407598.1:c.5363G>T NP_001394527.1:p.Gly1788Val missense NM_001407602.1:c.5363G>T NP_001394531.1:p.Gly1788Val missense NM_001407603.1:c.5363G>T NP_001394532.1:p.Gly1788Val missense NM_001407605.1:c.5363G>T NP_001394534.1:p.Gly1788Val missense NM_001407610.1:c.5360G>T NP_001394539.1:p.Gly1787Val missense NM_001407611.1:c.5360G>T NP_001394540.1:p.Gly1787Val missense NM_001407612.1:c.5360G>T NP_001394541.1:p.Gly1787Val missense NM_001407613.1:c.5360G>T NP_001394542.1:p.Gly1787Val missense NM_001407614.1:c.5360G>T NP_001394543.1:p.Gly1787Val missense NM_001407615.1:c.5360G>T NP_001394544.1:p.Gly1787Val missense NM_001407616.1:c.5360G>T NP_001394545.1:p.Gly1787Val missense NM_001407617.1:c.5360G>T NP_001394546.1:p.Gly1787Val missense NM_001407618.1:c.5360G>T NP_001394547.1:p.Gly1787Val missense NM_001407619.1:c.5360G>T NP_001394548.1:p.Gly1787Val missense NM_001407620.1:c.5360G>T NP_001394549.1:p.Gly1787Val missense NM_001407621.1:c.5360G>T NP_001394550.1:p.Gly1787Val missense NM_001407622.1:c.5360G>T NP_001394551.1:p.Gly1787Val missense NM_001407623.1:c.5360G>T NP_001394552.1:p.Gly1787Val missense NM_001407624.1:c.5360G>T NP_001394553.1:p.Gly1787Val missense NM_001407625.1:c.5360G>T NP_001394554.1:p.Gly1787Val missense NM_001407626.1:c.5360G>T NP_001394555.1:p.Gly1787Val missense NM_001407627.1:c.5357G>T NP_001394556.1:p.Gly1786Val missense NM_001407628.1:c.5357G>T NP_001394557.1:p.Gly1786Val missense NM_001407629.1:c.5357G>T NP_001394558.1:p.Gly1786Val missense NM_001407630.1:c.5357G>T NP_001394559.1:p.Gly1786Val missense NM_001407631.1:c.5357G>T NP_001394560.1:p.Gly1786Val missense NM_001407632.1:c.5357G>T NP_001394561.1:p.Gly1786Val missense NM_001407633.1:c.5357G>T NP_001394562.1:p.Gly1786Val missense NM_001407634.1:c.5357G>T NP_001394563.1:p.Gly1786Val missense NM_001407635.1:c.5357G>T NP_001394564.1:p.Gly1786Val missense NM_001407636.1:c.5357G>T NP_001394565.1:p.Gly1786Val missense NM_001407637.1:c.5357G>T NP_001394566.1:p.Gly1786Val missense NM_001407638.1:c.5357G>T NP_001394567.1:p.Gly1786Val missense NM_001407639.1:c.5357G>T NP_001394568.1:p.Gly1786Val missense NM_001407640.1:c.5357G>T NP_001394569.1:p.Gly1786Val missense NM_001407641.1:c.5357G>T NP_001394570.1:p.Gly1786Val missense NM_001407642.1:c.5357G>T NP_001394571.1:p.Gly1786Val missense NM_001407644.1:c.5354G>T NP_001394573.1:p.Gly1785Val missense NM_001407645.1:c.5354G>T NP_001394574.1:p.Gly1785Val missense NM_001407646.1:c.5351G>T NP_001394575.1:p.Gly1784Val missense NM_001407647.1:c.5348G>T NP_001394576.1:p.Gly1783Val missense NM_001407648.1:c.5306G>T NP_001394577.1:p.Gly1769Val missense NM_001407649.1:c.5303G>T NP_001394578.1:p.Gly1768Val missense NM_001407652.1:c.5285G>T NP_001394581.1:p.Gly1762Val missense NM_001407653.1:c.5285G>T NP_001394582.1:p.Gly1762Val missense NM_001407654.1:c.5285G>T NP_001394583.1:p.Gly1762Val missense NM_001407655.1:c.5285G>T NP_001394584.1:p.Gly1762Val missense NM_001407656.1:c.5282G>T NP_001394585.1:p.Gly1761Val missense NM_001407657.1:c.5282G>T NP_001394586.1:p.Gly1761Val missense NM_001407658.1:c.5282G>T NP_001394587.1:p.Gly1761Val missense NM_001407659.1:c.5279G>T NP_001394588.1:p.Gly1760Val missense NM_001407660.1:c.5279G>T NP_001394589.1:p.Gly1760Val missense NM_001407661.1:c.5279G>T NP_001394590.1:p.Gly1760Val missense NM_001407662.1:c.5279G>T NP_001394591.1:p.Gly1760Val missense NM_001407663.1:c.5279G>T NP_001394592.1:p.Gly1760Val missense NM_001407664.1:c.5240G>T NP_001394593.1:p.Gly1747Val missense NM_001407665.1:c.5240G>T NP_001394594.1:p.Gly1747Val missense NM_001407666.1:c.5240G>T NP_001394595.1:p.Gly1747Val missense NM_001407667.1:c.5240G>T NP_001394596.1:p.Gly1747Val missense NM_001407668.1:c.5240G>T NP_001394597.1:p.Gly1747Val missense NM_001407669.1:c.5240G>T NP_001394598.1:p.Gly1747Val missense NM_001407670.1:c.5237G>T NP_001394599.1:p.Gly1746Val missense NM_001407671.1:c.5237G>T NP_001394600.1:p.Gly1746Val missense NM_001407672.1:c.5237G>T NP_001394601.1:p.Gly1746Val missense NM_001407673.1:c.5237G>T NP_001394602.1:p.Gly1746Val missense NM_001407674.1:c.5237G>T NP_001394603.1:p.Gly1746Val missense NM_001407675.1:c.5237G>T NP_001394604.1:p.Gly1746Val missense NM_001407676.1:c.5237G>T NP_001394605.1:p.Gly1746Val missense NM_001407677.1:c.5237G>T NP_001394606.1:p.Gly1746Val missense NM_001407678.1:c.5237G>T NP_001394607.1:p.Gly1746Val missense NM_001407679.1:c.5237G>T NP_001394608.1:p.Gly1746Val missense NM_001407680.1:c.5237G>T NP_001394609.1:p.Gly1746Val missense NM_001407681.1:c.5234G>T NP_001394610.1:p.Gly1745Val missense NM_001407682.1:c.5234G>T NP_001394611.1:p.Gly1745Val missense NM_001407683.1:c.5234G>T NP_001394612.1:p.Gly1745Val missense NM_001407685.1:c.5234G>T NP_001394614.1:p.Gly1745Val missense NM_001407686.1:c.5234G>T NP_001394615.1:p.Gly1745Val missense NM_001407687.1:c.5234G>T NP_001394616.1:p.Gly1745Val missense NM_001407688.1:c.5234G>T NP_001394617.1:p.Gly1745Val missense NM_001407689.1:c.5234G>T NP_001394618.1:p.Gly1745Val missense NM_001407690.1:c.5231G>T NP_001394619.1:p.Gly1744Val missense NM_001407691.1:c.5231G>T NP_001394620.1:p.Gly1744Val missense NM_001407692.1:c.5222G>T NP_001394621.1:p.Gly1741Val missense NM_001407694.1:c.5222G>T NP_001394623.1:p.Gly1741Val missense NM_001407695.1:c.5222G>T NP_001394624.1:p.Gly1741Val missense NM_001407696.1:c.5222G>T NP_001394625.1:p.Gly1741Val missense NM_001407697.1:c.5222G>T NP_001394626.1:p.Gly1741Val missense NM_001407698.1:c.5222G>T NP_001394627.1:p.Gly1741Val missense NM_001407724.1:c.5222G>T NP_001394653.1:p.Gly1741Val missense NM_001407725.1:c.5222G>T NP_001394654.1:p.Gly1741Val missense NM_001407726.1:c.5222G>T NP_001394655.1:p.Gly1741Val missense NM_001407727.1:c.5222G>T NP_001394656.1:p.Gly1741Val missense NM_001407728.1:c.5222G>T NP_001394657.1:p.Gly1741Val missense NM_001407729.1:c.5222G>T NP_001394658.1:p.Gly1741Val missense NM_001407730.1:c.5222G>T NP_001394659.1:p.Gly1741Val missense NM_001407731.1:c.5222G>T NP_001394660.1:p.Gly1741Val missense NM_001407732.1:c.5219G>T NP_001394661.1:p.Gly1740Val missense NM_001407733.1:c.5219G>T NP_001394662.1:p.Gly1740Val missense NM_001407734.1:c.5219G>T NP_001394663.1:p.Gly1740Val missense NM_001407735.1:c.5219G>T NP_001394664.1:p.Gly1740Val missense NM_001407736.1:c.5219G>T NP_001394665.1:p.Gly1740Val missense NM_001407737.1:c.5219G>T NP_001394666.1:p.Gly1740Val missense NM_001407738.1:c.5219G>T NP_001394667.1:p.Gly1740Val missense NM_001407739.1:c.5219G>T NP_001394668.1:p.Gly1740Val missense NM_001407740.1:c.5219G>T NP_001394669.1:p.Gly1740Val missense NM_001407741.1:c.5219G>T NP_001394670.1:p.Gly1740Val missense NM_001407742.1:c.5219G>T NP_001394671.1:p.Gly1740Val missense NM_001407743.1:c.5219G>T NP_001394672.1:p.Gly1740Val missense NM_001407744.1:c.5219G>T NP_001394673.1:p.Gly1740Val missense NM_001407745.1:c.5219G>T NP_001394674.1:p.Gly1740Val missense NM_001407746.1:c.5219G>T NP_001394675.1:p.Gly1740Val missense NM_001407747.1:c.5219G>T NP_001394676.1:p.Gly1740Val missense NM_001407748.1:c.5219G>T NP_001394677.1:p.Gly1740Val missense NM_001407749.1:c.5219G>T NP_001394678.1:p.Gly1740Val missense NM_001407750.1:c.5219G>T NP_001394679.1:p.Gly1740Val missense NM_001407751.1:c.5219G>T NP_001394680.1:p.Gly1740Val missense NM_001407752.1:c.5219G>T NP_001394681.1:p.Gly1740Val missense NM_001407838.1:c.5216G>T NP_001394767.1:p.Gly1739Val missense NM_001407839.1:c.5216G>T NP_001394768.1:p.Gly1739Val missense NM_001407841.1:c.5216G>T NP_001394770.1:p.Gly1739Val missense NM_001407842.1:c.5216G>T NP_001394771.1:p.Gly1739Val missense NM_001407843.1:c.5216G>T NP_001394772.1:p.Gly1739Val missense NM_001407844.1:c.5216G>T NP_001394773.1:p.Gly1739Val missense NM_001407845.1:c.5216G>T NP_001394774.1:p.Gly1739Val missense NM_001407846.1:c.5216G>T NP_001394775.1:p.Gly1739Val missense NM_001407847.1:c.5216G>T NP_001394776.1:p.Gly1739Val missense NM_001407848.1:c.5216G>T NP_001394777.1:p.Gly1739Val missense NM_001407849.1:c.5216G>T NP_001394778.1:p.Gly1739Val missense NM_001407850.1:c.5216G>T NP_001394779.1:p.Gly1739Val missense NM_001407851.1:c.5216G>T NP_001394780.1:p.Gly1739Val missense NM_001407852.1:c.5216G>T NP_001394781.1:p.Gly1739Val missense NM_001407853.1:c.5216G>T NP_001394782.1:p.Gly1739Val missense NM_001407862.1:c.5162G>T NP_001394791.1:p.Gly1721Val missense NM_001407863.1:c.5159G>T NP_001394792.1:p.Gly1720Val missense NM_001407874.1:c.5156G>T NP_001394803.1:p.Gly1719Val missense NM_001407875.1:c.5156G>T NP_001394804.1:p.Gly1719Val missense NM_001407879.1:c.5153G>T NP_001394808.1:p.Gly1718Val missense NM_001407881.1:c.5153G>T NP_001394810.1:p.Gly1718Val missense NM_001407882.1:c.5153G>T NP_001394811.1:p.Gly1718Val missense NM_001407884.1:c.5153G>T NP_001394813.1:p.Gly1718Val missense NM_001407885.1:c.5153G>T NP_001394814.1:p.Gly1718Val missense NM_001407886.1:c.5153G>T NP_001394815.1:p.Gly1718Val missense NM_001407887.1:c.5153G>T NP_001394816.1:p.Gly1718Val missense NM_001407889.1:c.5153G>T NP_001394818.1:p.Gly1718Val missense NM_001407894.1:c.5150G>T NP_001394823.1:p.Gly1717Val missense NM_001407895.1:c.5150G>T NP_001394824.1:p.Gly1717Val missense NM_001407896.1:c.5150G>T NP_001394825.1:p.Gly1717Val missense NM_001407897.1:c.5150G>T NP_001394826.1:p.Gly1717Val missense NM_001407898.1:c.5150G>T NP_001394827.1:p.Gly1717Val missense NM_001407899.1:c.5150G>T NP_001394828.1:p.Gly1717Val missense NM_001407900.1:c.5150G>T NP_001394829.1:p.Gly1717Val missense NM_001407902.1:c.5150G>T NP_001394831.1:p.Gly1717Val missense NM_001407904.1:c.5150G>T NP_001394833.1:p.Gly1717Val missense NM_001407906.1:c.5150G>T NP_001394835.1:p.Gly1717Val missense NM_001407907.1:c.5150G>T NP_001394836.1:p.Gly1717Val missense NM_001407908.1:c.5150G>T NP_001394837.1:p.Gly1717Val missense NM_001407909.1:c.5150G>T NP_001394838.1:p.Gly1717Val missense NM_001407910.1:c.5150G>T NP_001394839.1:p.Gly1717Val missense NM_001407915.1:c.5147G>T NP_001394844.1:p.Gly1716Val missense NM_001407916.1:c.5147G>T NP_001394845.1:p.Gly1716Val missense NM_001407917.1:c.5147G>T NP_001394846.1:p.Gly1716Val missense NM_001407918.1:c.5147G>T NP_001394847.1:p.Gly1716Val missense NM_001407920.1:c.5099G>T NP_001394849.1:p.Gly1700Val missense NM_001407921.1:c.5099G>T NP_001394850.1:p.Gly1700Val missense NM_001407922.1:c.5099G>T NP_001394851.1:p.Gly1700Val missense NM_001407923.1:c.5099G>T NP_001394852.1:p.Gly1700Val missense NM_001407924.1:c.5099G>T NP_001394853.1:p.Gly1700Val missense NM_001407925.1:c.5099G>T NP_001394854.1:p.Gly1700Val missense NM_001407926.1:c.5099G>T NP_001394855.1:p.Gly1700Val missense NM_001407927.1:c.5096G>T NP_001394856.1:p.Gly1699Val missense NM_001407928.1:c.5096G>T NP_001394857.1:p.Gly1699Val missense NM_001407929.1:c.5096G>T NP_001394858.1:p.Gly1699Val missense NM_001407930.1:c.5096G>T NP_001394859.1:p.Gly1699Val missense NM_001407931.1:c.5096G>T NP_001394860.1:p.Gly1699Val missense NM_001407932.1:c.5096G>T NP_001394861.1:p.Gly1699Val missense NM_001407933.1:c.5096G>T NP_001394862.1:p.Gly1699Val missense NM_001407934.1:c.5093G>T NP_001394863.1:p.Gly1698Val missense NM_001407935.1:c.5093G>T NP_001394864.1:p.Gly1698Val missense NM_001407936.1:c.5093G>T NP_001394865.1:p.Gly1698Val missense NM_001407946.1:c.5030G>T NP_001394875.1:p.Gly1677Val missense NM_001407947.1:c.5030G>T NP_001394876.1:p.Gly1677Val missense NM_001407948.1:c.5030G>T NP_001394877.1:p.Gly1677Val missense NM_001407949.1:c.5030G>T NP_001394878.1:p.Gly1677Val missense NM_001407950.1:c.5027G>T NP_001394879.1:p.Gly1676Val missense NM_001407951.1:c.5027G>T NP_001394880.1:p.Gly1676Val missense NM_001407952.1:c.5027G>T NP_001394881.1:p.Gly1676Val missense NM_001407953.1:c.5027G>T NP_001394882.1:p.Gly1676Val missense NM_001407954.1:c.5027G>T NP_001394883.1:p.Gly1676Val missense NM_001407955.1:c.5027G>T NP_001394884.1:p.Gly1676Val missense NM_001407956.1:c.5024G>T NP_001394885.1:p.Gly1675Val missense NM_001407957.1:c.5024G>T NP_001394886.1:p.Gly1675Val missense NM_001407958.1:c.5024G>T NP_001394887.1:p.Gly1675Val missense NM_001407959.1:c.4982G>T NP_001394888.1:p.Gly1661Val missense NM_001407960.1:c.4979G>T NP_001394889.1:p.Gly1660Val missense NM_001407962.1:c.4979G>T NP_001394891.1:p.Gly1660Val missense NM_001407963.1:c.4976G>T NP_001394892.1:p.Gly1659Val missense NM_001407964.1:c.4901G>T NP_001394893.1:p.Gly1634Val missense NM_001407965.1:c.4856G>T NP_001394894.1:p.Gly1619Val missense NM_001407966.1:c.4475G>T NP_001394895.1:p.Gly1492Val missense NM_001407967.1:c.4472G>T NP_001394896.1:p.Gly1491Val missense NM_001407968.1:c.2759G>T NP_001394897.1:p.Gly920Val missense NM_001407969.1:c.2756G>T NP_001394898.1:p.Gly919Val missense NM_001407970.1:c.2120G>T NP_001394899.1:p.Gly707Val missense NM_001407971.1:c.2120G>T NP_001394900.1:p.Gly707Val missense NM_001407972.1:c.2117G>T NP_001394901.1:p.Gly706Val missense NM_001407973.1:c.2054G>T NP_001394902.1:p.Gly685Val missense NM_001407974.1:c.2054G>T NP_001394903.1:p.Gly685Val missense NM_001407975.1:c.2054G>T NP_001394904.1:p.Gly685Val missense NM_001407976.1:c.2054G>T NP_001394905.1:p.Gly685Val missense NM_001407977.1:c.2054G>T NP_001394906.1:p.Gly685Val missense NM_001407978.1:c.2054G>T NP_001394907.1:p.Gly685Val missense NM_001407979.1:c.2051G>T NP_001394908.1:p.Gly684Val missense NM_001407980.1:c.2051G>T NP_001394909.1:p.Gly684Val missense NM_001407981.1:c.2051G>T NP_001394910.1:p.Gly684Val missense NM_001407982.1:c.2051G>T NP_001394911.1:p.Gly684Val missense NM_001407983.1:c.2051G>T NP_001394912.1:p.Gly684Val missense NM_001407984.1:c.2051G>T NP_001394913.1:p.Gly684Val missense NM_001407985.1:c.2051G>T NP_001394914.1:p.Gly684Val missense NM_001407986.1:c.2051G>T NP_001394915.1:p.Gly684Val missense NM_001407990.1:c.2051G>T NP_001394919.1:p.Gly684Val missense NM_001407991.1:c.2051G>T NP_001394920.1:p.Gly684Val missense NM_001407992.1:c.2051G>T NP_001394921.1:p.Gly684Val missense NM_001407993.1:c.2051G>T NP_001394922.1:p.Gly684Val missense NM_001408392.1:c.2048G>T NP_001395321.1:p.Gly683Val missense NM_001408396.1:c.2048G>T NP_001395325.1:p.Gly683Val missense NM_001408397.1:c.2048G>T NP_001395326.1:p.Gly683Val missense NM_001408398.1:c.2048G>T NP_001395327.1:p.Gly683Val missense NM_001408399.1:c.2048G>T NP_001395328.1:p.Gly683Val missense NM_001408400.1:c.2048G>T NP_001395329.1:p.Gly683Val missense NM_001408401.1:c.2048G>T NP_001395330.1:p.Gly683Val missense NM_001408402.1:c.2048G>T NP_001395331.1:p.Gly683Val missense NM_001408403.1:c.2048G>T NP_001395332.1:p.Gly683Val missense NM_001408404.1:c.2048G>T NP_001395333.1:p.Gly683Val missense NM_001408406.1:c.2045G>T NP_001395335.1:p.Gly682Val missense NM_001408407.1:c.2045G>T NP_001395336.1:p.Gly682Val missense NM_001408408.1:c.2045G>T NP_001395337.1:p.Gly682Val missense NM_001408409.1:c.2042G>T NP_001395338.1:p.Gly681Val missense NM_001408410.1:c.1979G>T NP_001395339.1:p.Gly660Val missense NM_001408411.1:c.1976G>T NP_001395340.1:p.Gly659Val missense NM_001408412.1:c.1973G>T NP_001395341.1:p.Gly658Val missense NM_001408413.1:c.1973G>T NP_001395342.1:p.Gly658Val missense NM_001408414.1:c.1973G>T NP_001395343.1:p.Gly658Val missense NM_001408415.1:c.1973G>T NP_001395344.1:p.Gly658Val missense NM_001408416.1:c.1973G>T NP_001395345.1:p.Gly658Val missense NM_001408418.1:c.1937G>T NP_001395347.1:p.Gly646Val missense NM_001408419.1:c.1937G>T NP_001395348.1:p.Gly646Val missense NM_001408420.1:c.1937G>T NP_001395349.1:p.Gly646Val missense NM_001408421.1:c.1934G>T NP_001395350.1:p.Gly645Val missense NM_001408422.1:c.1934G>T NP_001395351.1:p.Gly645Val missense NM_001408423.1:c.1934G>T NP_001395352.1:p.Gly645Val missense NM_001408424.1:c.1934G>T NP_001395353.1:p.Gly645Val missense NM_001408425.1:c.1931G>T NP_001395354.1:p.Gly644Val missense NM_001408426.1:c.1931G>T NP_001395355.1:p.Gly644Val missense NM_001408427.1:c.1931G>T NP_001395356.1:p.Gly644Val missense NM_001408428.1:c.1931G>T NP_001395357.1:p.Gly644Val missense NM_001408429.1:c.1931G>T NP_001395358.1:p.Gly644Val missense NM_001408430.1:c.1931G>T NP_001395359.1:p.Gly644Val missense NM_001408431.1:c.1931G>T NP_001395360.1:p.Gly644Val missense NM_001408432.1:c.1928G>T NP_001395361.1:p.Gly643Val missense NM_001408433.1:c.1928G>T NP_001395362.1:p.Gly643Val missense NM_001408434.1:c.1928G>T NP_001395363.1:p.Gly643Val missense NM_001408435.1:c.1928G>T NP_001395364.1:p.Gly643Val missense NM_001408436.1:c.1928G>T NP_001395365.1:p.Gly643Val missense NM_001408437.1:c.1928G>T NP_001395366.1:p.Gly643Val missense NM_001408438.1:c.1928G>T NP_001395367.1:p.Gly643Val missense NM_001408439.1:c.1928G>T NP_001395368.1:p.Gly643Val missense NM_001408440.1:c.1928G>T NP_001395369.1:p.Gly643Val missense NM_001408441.1:c.1928G>T NP_001395370.1:p.Gly643Val missense NM_001408442.1:c.1928G>T NP_001395371.1:p.Gly643Val missense NM_001408443.1:c.1928G>T NP_001395372.1:p.Gly643Val missense NM_001408444.1:c.1928G>T NP_001395373.1:p.Gly643Val missense NM_001408445.1:c.1925G>T NP_001395374.1:p.Gly642Val missense NM_001408446.1:c.1925G>T NP_001395375.1:p.Gly642Val missense NM_001408447.1:c.1925G>T NP_001395376.1:p.Gly642Val missense NM_001408448.1:c.1925G>T NP_001395377.1:p.Gly642Val missense NM_001408450.1:c.1925G>T NP_001395379.1:p.Gly642Val missense NM_001408451.1:c.1919G>T NP_001395380.1:p.Gly640Val missense NM_001408452.1:c.1913G>T NP_001395381.1:p.Gly638Val missense NM_001408453.1:c.1913G>T NP_001395382.1:p.Gly638Val missense NM_001408454.1:c.1913G>T NP_001395383.1:p.Gly638Val missense NM_001408455.1:c.1913G>T NP_001395384.1:p.Gly638Val missense NM_001408456.1:c.1913G>T NP_001395385.1:p.Gly638Val missense NM_001408457.1:c.1913G>T NP_001395386.1:p.Gly638Val missense NM_001408458.1:c.1910G>T NP_001395387.1:p.Gly637Val missense NM_001408459.1:c.1910G>T NP_001395388.1:p.Gly637Val missense NM_001408460.1:c.1910G>T NP_001395389.1:p.Gly637Val missense NM_001408461.1:c.1910G>T NP_001395390.1:p.Gly637Val missense NM_001408462.1:c.1910G>T NP_001395391.1:p.Gly637Val missense NM_001408463.1:c.1910G>T NP_001395392.1:p.Gly637Val missense NM_001408464.1:c.1910G>T NP_001395393.1:p.Gly637Val missense NM_001408465.1:c.1910G>T NP_001395394.1:p.Gly637Val missense NM_001408466.1:c.1910G>T NP_001395395.1:p.Gly637Val missense NM_001408467.1:c.1910G>T NP_001395396.1:p.Gly637Val missense NM_001408468.1:c.1907G>T NP_001395397.1:p.Gly636Val missense NM_001408469.1:c.1907G>T NP_001395398.1:p.Gly636Val missense NM_001408470.1:c.1907G>T NP_001395399.1:p.Gly636Val missense NM_001408474.1:c.1853G>T NP_001395403.1:p.Gly618Val missense NM_001408475.1:c.1850G>T NP_001395404.1:p.Gly617Val missense NM_001408476.1:c.1850G>T NP_001395405.1:p.Gly617Val missense NM_001408478.1:c.1844G>T NP_001395407.1:p.Gly615Val missense NM_001408479.1:c.1844G>T NP_001395408.1:p.Gly615Val missense NM_001408480.1:c.1844G>T NP_001395409.1:p.Gly615Val missense NM_001408481.1:c.1841G>T NP_001395410.1:p.Gly614Val missense NM_001408482.1:c.1841G>T NP_001395411.1:p.Gly614Val missense NM_001408483.1:c.1841G>T NP_001395412.1:p.Gly614Val missense NM_001408484.1:c.1841G>T NP_001395413.1:p.Gly614Val missense NM_001408485.1:c.1841G>T NP_001395414.1:p.Gly614Val missense NM_001408489.1:c.1841G>T NP_001395418.1:p.Gly614Val missense NM_001408490.1:c.1841G>T NP_001395419.1:p.Gly614Val missense NM_001408491.1:c.1841G>T NP_001395420.1:p.Gly614Val missense NM_001408492.1:c.1838G>T NP_001395421.1:p.Gly613Val missense NM_001408493.1:c.1838G>T NP_001395422.1:p.Gly613Val missense NM_001408494.1:c.1814G>T NP_001395423.1:p.Gly605Val missense NM_001408495.1:c.1808G>T NP_001395424.1:p.Gly603Val missense NM_001408496.1:c.1790G>T NP_001395425.1:p.Gly597Val missense NM_001408497.1:c.1790G>T NP_001395426.1:p.Gly597Val missense NM_001408498.1:c.1790G>T NP_001395427.1:p.Gly597Val missense NM_001408499.1:c.1790G>T NP_001395428.1:p.Gly597Val missense NM_001408500.1:c.1790G>T NP_001395429.1:p.Gly597Val missense NM_001408501.1:c.1790G>T NP_001395430.1:p.Gly597Val missense NM_001408502.1:c.1787G>T NP_001395431.1:p.Gly596Val missense NM_001408503.1:c.1787G>T NP_001395432.1:p.Gly596Val missense NM_001408504.1:c.1787G>T NP_001395433.1:p.Gly596Val missense NM_001408505.1:c.1784G>T NP_001395434.1:p.Gly595Val missense NM_001408506.1:c.1727G>T NP_001395435.1:p.Gly576Val missense NM_001408507.1:c.1724G>T NP_001395436.1:p.Gly575Val missense NM_001408508.1:c.1715G>T NP_001395437.1:p.Gly572Val missense NM_001408509.1:c.1712G>T NP_001395438.1:p.Gly571Val missense NM_001408510.1:c.1673G>T NP_001395439.1:p.Gly558Val missense NM_001408511.1:c.1670G>T NP_001395440.1:p.Gly557Val missense NM_001408512.1:c.1550G>T NP_001395441.1:p.Gly517Val missense NM_001408513.1:c.1523G>T NP_001395442.1:p.Gly508Val missense NM_001408514.1:c.1127G>T NP_001395443.1:p.Gly376Val missense NM_007297.4:c.5222G>T NP_009228.2:p.Gly1741Val missense NM_007298.4:c.2051G>T NP_009229.2:p.Gly684Val missense NM_007299.4:c.2021-1461G>T intron variant NM_007300.4:c.5426G>T NP_009231.2:p.Gly1809Val missense NM_007304.2:c.2051G>T NP_009235.2:p.Gly684Val missense NR_027676.2:n.5540G>T non-coding transcript variant NC_000017.11:g.43049164C>A NC_000017.10:g.41201181C>A NG_005905.2:g.168820G>T LRG_292:g.168820G>T LRG_292t1:c.5363G>T LRG_292p1:p.Gly1788Val P38398:p.Gly1788Val U14680.1:n.5482G>T - Protein change
- G1788V, G1741V, G1809V, G684V, G1619V, G1677V, G1717V, G1739V, G1491V, G1634V, G1660V, G1718V, G1746V, G1768V, G1783V, G1786V, G1808V, G376V, G517V, G558V, G576V, G617V, G618V, G643V, G658V, G683V, G706V, G1492V, G1659V, G1661V, G1700V, G1719V, G1720V, G1740V, G571V, G595V, G597V, G613V, G614V, G637V, G638V, G640V, G642V, G644V, G685V, G920V, G1675V, G1676V, G1698V, G1699V, G1716V, G1721V, G1744V, G1747V, G1762V, G1785V, G1787V, G557V, G572V, G575V, G596V, G615V, G645V, G646V, G660V, G682V, G919V, G1745V, G1760V, G1761V, G1769V, G1784V, G1810V, G508V, G603V, G605V, G636V, G659V, G681V, G707V
- Other names
- 5482G>T
- Canonical SPDI
- NC_000017.11:43049163:C:A
-
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.5363G>T, a MISSENSE variant, produced a function score of -1.68, 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.
The Genome Aggregation Database (gnomAD) 0.00001
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13029 | 14833 |
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. |
---|---|---|---|---|
Pathogenic (7) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000031241.20 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 16, 2023 | RCV000048961.23 | |
Pathogenic (1) |
criteria provided, single submitter
|
May 6, 2022 | RCV000162885.12 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 8, 2021 | RCV000235698.16 | |
Pathogenic (1) |
criteria provided, single submitter
|
Oct 26, 2018 | RCV001002191.15 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244400.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 1 (less)
|
|
Pathogenic
(May 06, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213372.7
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.G1788V pathogenic mutation (also known as c.5363G>T), located in coding exon 20 of the BRCA1 gene, results from a G to T substitution at … (more)
The p.G1788V pathogenic mutation (also known as c.5363G>T), located in coding exon 20 of the BRCA1 gene, results from a G to T substitution at nucleotide position 5363. The glycine at codon 1788 is replaced by valine, an amino acid with dissimilar properties. This mutation has been reported in multiple individuals with a personal and family histories of breast and/or ovarian cancer (Berchuck A et al. Clin Cancer Res. 1998 Oct;4(10):2433-7; Sun J et al. Clin. Cancer Res. 2017 Oct;23(20):6113-6119; Cao W et al. J Epidemiol 2013 Jan;23(2):75-84; Rebbeck T et al. Hum. Mutat. 2018 May;39(5):593-620). In a series of functional analyses, this alteration was determined to result in a severe protein folding defect, binding specificity of less than 20% of wild type (but normal binding activity), and transcriptional activity of less than 20% of wild type (Lee MS et al. Cancer Res. 2010 Jun;70(12):4880-90). Other functional studies have also demonstrated that this alteration leads to significant loss of function (Woods et al. NPJ Genom Med 2016 Mar;1; Findlay GM et al. Nature 2018 10;562(7726):217-222). Based on internal structural assessment, alterations at codon 1788 are expected to cause general structural disruption of the BRCT domain (Clapperton, JA et al. Nat. Struct. Mol. Biol. 2004 Jun;11(6):512-8). Of note, this alteration is also referred to as 5482G>T in published literature. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as a pathogenic mutation. (less)
|
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Pathogenic
(Oct 26, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001160062.1
First in ClinVar: Feb 10, 2020 Last updated: Feb 10, 2020 |
Comment:
The BRCA1 c.5363G>T; p.Gly1788Val variant (rs80357069) is reported in the literature in multiple individuals affected with breast or ovarian cancer (Berchuck 1998, Chen 2009, Easton … (more)
The BRCA1 c.5363G>T; p.Gly1788Val variant (rs80357069) is reported in the literature in multiple individuals affected with breast or ovarian cancer (Berchuck 1998, Chen 2009, Easton 2007, Kwong 2015, Lu 2015, Sun 2017, Zhang 2012). This variant is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 37660), and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The glycine at codon 1788 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Functional analyses of the variant protein show protease sensitivity, impaired protein folding, and reduced stability, homologous recombination activity, and transcriptional activity (Lee 2010, Lu 2015, Phelan 2005, Williams 2003). Based on available information, the p.Gly1788Val variant is considered to be pathogenic. References: Berchuck A et al. Frequency of germline and somatic BRCA1 mutations in ovarian cancer. Clin Cancer Res. 1998 Oct;4(10):2433-7. Chen W et al. BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. Breast Cancer Res Treat. 2009 Sep;117(1):55-60. Easton DF et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet. 2007 Nov;81(5):873-83. Kwong A et al. Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. J Med Genet. 2016 Jan;53(1):15-23. Lee MS et al. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res. 2010 Jun 15;70(12):4880-90. Lu C et al. Patterns and functional implications of rare germline variants across 12 cancer types. Nat Commun. 2015 Dec 22;6:10086. Phelan CM et al. Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet. 2005 Feb;42(2):138-46. Sun J et al. Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. Clin Cancer Res. 2017 Oct 15;23(20):6113-6119. Williams RS et al. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J Biol Chem. 2003 Dec 26;278(52):53007-16. Zhang J et al. Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. Breast Cancer Res Treat. 2012 Apr;132(2):421-8. (less)
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Pathogenic
(Nov 02, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699249.2
First in ClinVar: Dec 26, 2017 Last updated: Dec 07, 2020 |
Comment:
Variant summary: BRCA1 c.5363G>T (p.Gly1788Val) results in a non-conservative amino acid change located in the BRCT domain (IPR001357) of the encoded protein sequence. Four of … (more)
Variant summary: BRCA1 c.5363G>T (p.Gly1788Val) results in a non-conservative amino acid change located in the BRCT domain (IPR001357) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 252442 control chromosomes. c.5363G>T has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Several publications report experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in loss of BRCA1 protein structural stability, peptide binding specificity, and transcriptional activity (example, Williams_2003, Phelan_2005, Lee_2010, Rowling_2010, Coyne_2004). Seven clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Nov 18, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887726.2
First in ClinVar: Mar 13, 2019 Last updated: Jan 03, 2022 |
Comment:
This variant has been reported in individuals with breast and/or ovarian in the published literature (PMID: 29446198 (2018), 28724667 (2017), 26689913 (2015), 23318652 (2013), 21990134 … (more)
This variant has been reported in individuals with breast and/or ovarian in the published literature (PMID: 29446198 (2018), 28724667 (2017), 26689913 (2015), 23318652 (2013), 21990134 (2012), 21614564 (2012), 21447777 (2011), 18512148 (2009), 12354934 (2002), 9796975 (1998)). Functional studies indicate that this variant has a damaging impact on the BRCA1 protein (PMID: 30209399 (2018), 27272900 (2016), 20516115 (2010), 18992264 (2009), 14534301 (2003)). This variant is located in potentially critical domain of the protein (BRCT domain) and other pathogenic or likely pathogenic variants affect the same amino acid. Therefore, the variant is classified as pathogenic. (less)
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Pathogenic
(Dec 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004216867.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Nov 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000076974.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1788 of the BRCA1 protein (p.Gly1788Val). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1788 of the BRCA1 protein (p.Gly1788Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 9796975, 16267036, 18512148, 21614564, 26689913). It has also been observed to segregate with disease in related individuals. This variant is also known as 5482G>T. ClinVar contains an entry for this variant (Variation ID: 37660). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 14534301, 15689452, 20516115, 26689913). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Nov 08, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000292527.13
First in ClinVar: Jul 24, 2016 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate a damaging effect: disrupted protein stability, decreased transcriptional activation, and defective homology directed repair (Williams 2003, Gaiser 2004, Williams 2004, Phelan … (more)
Published functional studies demonstrate a damaging effect: disrupted protein stability, decreased transcriptional activation, and defective homology directed repair (Williams 2003, Gaiser 2004, Williams 2004, Phelan 2005, Glover 2006, Lee 2010, Rowling 2010, Lu 2015, Findlay 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with a personal and/or family history of breast or ovarian cancer (Berchuck 1998, Chen 2009, Cao 2013, Kanchi 2014, Lu 2015); Not observed at a significant frequency in large population cohorts (Lek 2016); Multifactorial studies suggest this variant is associated with breast and ovarian cancer (Lindor 2012); Also known as 5482G>T; This variant is associated with the following publications: (PMID: 15004537, 15133503, 10946236, 20081198, 23318652, 24448499, 18418466, 17924331, 9796975, 15235020, 17305420, 21447777, 20378548, 20516115, 15609993, 18951461, 18512148, 15172985, 14534301, 16528612, 22753008, 18992264, 12096901, 20423312, 26848529, 15689452, 26689913, 26787237, 27272900, 26187060, 28724667, 28781887, 30702160, 29446198, 30730459, 30765603, 29625052, 33087888, 31825140, 34063805, 21990134, 30209399) (less)
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Pathogenic
(Nov 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000785680.2
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326293.4
First in ClinVar: Sep 29, 2015 Last updated: Dec 11, 2022 |
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145482.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 8
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Native American
Observation 4:
Number of individuals with the variant: 7
Ethnicity/Population group: Western European
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Pathogenic
(Sep 07, 2011)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053845.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001242679.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.67971518079398
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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. |
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functionally_abnormal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001242679.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5363G>T, a MISSENSE variant, produced a function score of -1.68, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5363G>T, a MISSENSE variant, produced a function score of -1.68, 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)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. | Sun J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 28724667 |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. | Thouvenot P | PLoS genetics | 2016 | PMID: 27272900 |
Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. | Meric-Bernstam F | Annals of oncology : official journal of the European Society for Medical Oncology | 2016 | PMID: 26787237 |
Patterns and functional implications of rare germline variants across 12 cancer types. | Lu C | Nature communications | 2015 | PMID: 26689913 |
Hereditary breast cancer in the Han Chinese population. | Cao W | Journal of epidemiology | 2013 | PMID: 23318652 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. | Zhang J | Breast cancer research and treatment | 2012 | PMID: 21614564 |
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. | Iversen ES Jr | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2011 | PMID: 21447777 |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. | Lee MS | Cancer research | 2010 | PMID: 20516115 |
Toward classification of BRCA1 missense variants using a biophysical approach. | Rowling PJ | The Journal of biological chemistry | 2010 | PMID: 20378548 |
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. | Carvalho M | Mutation research | 2009 | PMID: 18992264 |
BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. | Chen W | Breast cancer research and treatment | 2009 | PMID: 18512148 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. | Carvalho MA | Cancer research | 2007 | PMID: 17308087 |
Functional impact of missense variants in BRCA1 predicted by supervised learning. | Karchin R | PLoS computational biology | 2007 | PMID: 17305420 |
Classification of Missense Mutations of Disease Genes. | Zhou X | Journal of the American Statistical Association | 2005 | PMID: 18418466 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Classification of BRCA1 missense variants of unknown clinical significance. | Phelan CM | Journal of medical genetics | 2005 | PMID: 15689452 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. | Mirkovic N | Cancer research | 2004 | PMID: 15172985 |
Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay. | Coyne RS | Cancer biology & therapy | 2004 | PMID: 15004537 |
Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. | Williams RS | The Journal of biological chemistry | 2003 | PMID: 14534301 |
Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer. | Jongsma AP | Molecular pathology : MP | 2002 | PMID: 12354934 |
Frequency of germline and somatic BRCA1 mutations in ovarian cancer. | Berchuck A | Clinical cancer research : an official journal of the American Association for Cancer Research | 1998 | PMID: 9796975 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.5363G%3ET | - | - | - | - |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
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Text-mined citations for rs80357069 ...
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.