ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu)
Variation ID: 37464 Accession: VCV000037464.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093180 (GRCh38) [ NCBI UCSC ] 17: 41245197 (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 Jun 18, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2351C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser784Leu missense NM_001407571.1:c.2138C>T NP_001394500.1:p.Ser713Leu missense NM_001407581.1:c.2351C>T NP_001394510.1:p.Ser784Leu missense NM_001407582.1:c.2351C>T NP_001394511.1:p.Ser784Leu missense NM_001407583.1:c.2351C>T NP_001394512.1:p.Ser784Leu missense NM_001407585.1:c.2351C>T NP_001394514.1:p.Ser784Leu missense NM_001407587.1:c.2348C>T NP_001394516.1:p.Ser783Leu missense NM_001407590.1:c.2348C>T NP_001394519.1:p.Ser783Leu missense NM_001407591.1:c.2348C>T NP_001394520.1:p.Ser783Leu missense NM_001407593.1:c.2351C>T NP_001394522.1:p.Ser784Leu missense NM_001407594.1:c.2351C>T NP_001394523.1:p.Ser784Leu missense NM_001407596.1:c.2351C>T NP_001394525.1:p.Ser784Leu missense NM_001407597.1:c.2351C>T NP_001394526.1:p.Ser784Leu missense NM_001407598.1:c.2351C>T NP_001394527.1:p.Ser784Leu missense NM_001407602.1:c.2351C>T NP_001394531.1:p.Ser784Leu missense NM_001407603.1:c.2351C>T NP_001394532.1:p.Ser784Leu missense NM_001407605.1:c.2351C>T NP_001394534.1:p.Ser784Leu missense NM_001407610.1:c.2348C>T NP_001394539.1:p.Ser783Leu missense NM_001407611.1:c.2348C>T NP_001394540.1:p.Ser783Leu missense NM_001407612.1:c.2348C>T NP_001394541.1:p.Ser783Leu missense NM_001407613.1:c.2348C>T NP_001394542.1:p.Ser783Leu missense NM_001407614.1:c.2348C>T NP_001394543.1:p.Ser783Leu missense NM_001407615.1:c.2348C>T NP_001394544.1:p.Ser783Leu missense NM_001407616.1:c.2351C>T NP_001394545.1:p.Ser784Leu missense NM_001407617.1:c.2351C>T NP_001394546.1:p.Ser784Leu missense NM_001407618.1:c.2351C>T NP_001394547.1:p.Ser784Leu missense NM_001407619.1:c.2351C>T NP_001394548.1:p.Ser784Leu missense NM_001407620.1:c.2351C>T NP_001394549.1:p.Ser784Leu missense NM_001407621.1:c.2351C>T NP_001394550.1:p.Ser784Leu missense NM_001407622.1:c.2351C>T NP_001394551.1:p.Ser784Leu missense NM_001407623.1:c.2351C>T NP_001394552.1:p.Ser784Leu missense NM_001407624.1:c.2351C>T NP_001394553.1:p.Ser784Leu missense NM_001407625.1:c.2351C>T NP_001394554.1:p.Ser784Leu missense NM_001407626.1:c.2351C>T NP_001394555.1:p.Ser784Leu missense NM_001407627.1:c.2348C>T NP_001394556.1:p.Ser783Leu missense NM_001407628.1:c.2348C>T NP_001394557.1:p.Ser783Leu missense NM_001407629.1:c.2348C>T NP_001394558.1:p.Ser783Leu missense NM_001407630.1:c.2348C>T NP_001394559.1:p.Ser783Leu missense NM_001407631.1:c.2348C>T NP_001394560.1:p.Ser783Leu missense NM_001407632.1:c.2348C>T NP_001394561.1:p.Ser783Leu missense NM_001407633.1:c.2348C>T NP_001394562.1:p.Ser783Leu missense NM_001407634.1:c.2348C>T NP_001394563.1:p.Ser783Leu missense NM_001407635.1:c.2348C>T NP_001394564.1:p.Ser783Leu missense NM_001407636.1:c.2348C>T NP_001394565.1:p.Ser783Leu missense NM_001407637.1:c.2348C>T NP_001394566.1:p.Ser783Leu missense NM_001407638.1:c.2348C>T NP_001394567.1:p.Ser783Leu missense NM_001407639.1:c.2351C>T NP_001394568.1:p.Ser784Leu missense NM_001407640.1:c.2351C>T NP_001394569.1:p.Ser784Leu missense NM_001407641.1:c.2351C>T NP_001394570.1:p.Ser784Leu missense NM_001407642.1:c.2351C>T NP_001394571.1:p.Ser784Leu missense NM_001407644.1:c.2348C>T NP_001394573.1:p.Ser783Leu missense NM_001407645.1:c.2348C>T NP_001394574.1:p.Ser783Leu missense NM_001407646.1:c.2342C>T NP_001394575.1:p.Ser781Leu missense NM_001407647.1:c.2342C>T NP_001394576.1:p.Ser781Leu missense NM_001407648.1:c.2228C>T NP_001394577.1:p.Ser743Leu missense NM_001407649.1:c.2225C>T NP_001394578.1:p.Ser742Leu missense NM_001407652.1:c.2351C>T NP_001394581.1:p.Ser784Leu missense NM_001407653.1:c.2273C>T NP_001394582.1:p.Ser758Leu missense NM_001407654.1:c.2273C>T NP_001394583.1:p.Ser758Leu missense NM_001407655.1:c.2273C>T NP_001394584.1:p.Ser758Leu missense NM_001407656.1:c.2273C>T NP_001394585.1:p.Ser758Leu missense NM_001407657.1:c.2273C>T NP_001394586.1:p.Ser758Leu missense NM_001407658.1:c.2273C>T NP_001394587.1:p.Ser758Leu missense NM_001407659.1:c.2270C>T NP_001394588.1:p.Ser757Leu missense NM_001407660.1:c.2270C>T NP_001394589.1:p.Ser757Leu missense NM_001407661.1:c.2270C>T NP_001394590.1:p.Ser757Leu missense NM_001407662.1:c.2270C>T NP_001394591.1:p.Ser757Leu missense NM_001407663.1:c.2273C>T NP_001394592.1:p.Ser758Leu missense NM_001407664.1:c.2228C>T NP_001394593.1:p.Ser743Leu missense NM_001407665.1:c.2228C>T NP_001394594.1:p.Ser743Leu missense NM_001407666.1:c.2228C>T NP_001394595.1:p.Ser743Leu missense NM_001407667.1:c.2228C>T NP_001394596.1:p.Ser743Leu missense NM_001407668.1:c.2228C>T NP_001394597.1:p.Ser743Leu missense NM_001407669.1:c.2228C>T NP_001394598.1:p.Ser743Leu missense NM_001407670.1:c.2225C>T NP_001394599.1:p.Ser742Leu missense NM_001407671.1:c.2225C>T NP_001394600.1:p.Ser742Leu missense NM_001407672.1:c.2225C>T NP_001394601.1:p.Ser742Leu missense NM_001407673.1:c.2225C>T NP_001394602.1:p.Ser742Leu missense NM_001407674.1:c.2228C>T NP_001394603.1:p.Ser743Leu missense NM_001407675.1:c.2228C>T NP_001394604.1:p.Ser743Leu missense NM_001407676.1:c.2228C>T NP_001394605.1:p.Ser743Leu missense NM_001407677.1:c.2228C>T NP_001394606.1:p.Ser743Leu missense NM_001407678.1:c.2228C>T NP_001394607.1:p.Ser743Leu missense NM_001407679.1:c.2228C>T NP_001394608.1:p.Ser743Leu missense NM_001407680.1:c.2228C>T NP_001394609.1:p.Ser743Leu missense NM_001407681.1:c.2228C>T NP_001394610.1:p.Ser743Leu missense NM_001407682.1:c.2228C>T NP_001394611.1:p.Ser743Leu missense NM_001407683.1:c.2228C>T NP_001394612.1:p.Ser743Leu missense NM_001407684.1:c.2351C>T NP_001394613.1:p.Ser784Leu missense NM_001407685.1:c.2225C>T NP_001394614.1:p.Ser742Leu missense NM_001407686.1:c.2225C>T NP_001394615.1:p.Ser742Leu missense NM_001407687.1:c.2225C>T NP_001394616.1:p.Ser742Leu missense NM_001407688.1:c.2225C>T NP_001394617.1:p.Ser742Leu missense NM_001407689.1:c.2225C>T NP_001394618.1:p.Ser742Leu missense NM_001407690.1:c.2225C>T NP_001394619.1:p.Ser742Leu missense NM_001407691.1:c.2225C>T NP_001394620.1:p.Ser742Leu missense NM_001407692.1:c.2210C>T NP_001394621.1:p.Ser737Leu missense NM_001407694.1:c.2210C>T NP_001394623.1:p.Ser737Leu missense NM_001407695.1:c.2210C>T NP_001394624.1:p.Ser737Leu missense NM_001407696.1:c.2210C>T NP_001394625.1:p.Ser737Leu missense NM_001407697.1:c.2210C>T NP_001394626.1:p.Ser737Leu missense NM_001407698.1:c.2210C>T NP_001394627.1:p.Ser737Leu missense NM_001407724.1:c.2210C>T NP_001394653.1:p.Ser737Leu missense NM_001407725.1:c.2210C>T NP_001394654.1:p.Ser737Leu missense NM_001407726.1:c.2210C>T NP_001394655.1:p.Ser737Leu missense NM_001407727.1:c.2210C>T NP_001394656.1:p.Ser737Leu missense NM_001407728.1:c.2210C>T NP_001394657.1:p.Ser737Leu missense NM_001407729.1:c.2210C>T NP_001394658.1:p.Ser737Leu missense NM_001407730.1:c.2210C>T NP_001394659.1:p.Ser737Leu missense NM_001407731.1:c.2210C>T NP_001394660.1:p.Ser737Leu missense NM_001407732.1:c.2210C>T NP_001394661.1:p.Ser737Leu missense NM_001407733.1:c.2210C>T NP_001394662.1:p.Ser737Leu missense NM_001407734.1:c.2210C>T NP_001394663.1:p.Ser737Leu missense NM_001407735.1:c.2210C>T NP_001394664.1:p.Ser737Leu missense NM_001407736.1:c.2210C>T NP_001394665.1:p.Ser737Leu missense NM_001407737.1:c.2210C>T NP_001394666.1:p.Ser737Leu missense NM_001407738.1:c.2210C>T NP_001394667.1:p.Ser737Leu missense NM_001407739.1:c.2210C>T NP_001394668.1:p.Ser737Leu missense NM_001407740.1:c.2207C>T NP_001394669.1:p.Ser736Leu missense NM_001407741.1:c.2207C>T NP_001394670.1:p.Ser736Leu missense NM_001407742.1:c.2207C>T NP_001394671.1:p.Ser736Leu missense NM_001407743.1:c.2207C>T NP_001394672.1:p.Ser736Leu missense NM_001407744.1:c.2207C>T NP_001394673.1:p.Ser736Leu missense NM_001407745.1:c.2207C>T NP_001394674.1:p.Ser736Leu missense NM_001407746.1:c.2207C>T NP_001394675.1:p.Ser736Leu missense NM_001407747.1:c.2207C>T NP_001394676.1:p.Ser736Leu missense NM_001407748.1:c.2207C>T NP_001394677.1:p.Ser736Leu missense NM_001407749.1:c.2207C>T NP_001394678.1:p.Ser736Leu missense NM_001407750.1:c.2210C>T NP_001394679.1:p.Ser737Leu missense NM_001407751.1:c.2210C>T NP_001394680.1:p.Ser737Leu missense NM_001407752.1:c.2210C>T NP_001394681.1:p.Ser737Leu missense NM_001407838.1:c.2207C>T NP_001394767.1:p.Ser736Leu missense NM_001407839.1:c.2207C>T NP_001394768.1:p.Ser736Leu missense NM_001407841.1:c.2207C>T NP_001394770.1:p.Ser736Leu missense NM_001407842.1:c.2207C>T NP_001394771.1:p.Ser736Leu missense NM_001407843.1:c.2207C>T NP_001394772.1:p.Ser736Leu missense NM_001407844.1:c.2207C>T NP_001394773.1:p.Ser736Leu missense NM_001407845.1:c.2207C>T NP_001394774.1:p.Ser736Leu missense NM_001407846.1:c.2207C>T NP_001394775.1:p.Ser736Leu missense NM_001407847.1:c.2207C>T NP_001394776.1:p.Ser736Leu missense NM_001407848.1:c.2207C>T NP_001394777.1:p.Ser736Leu missense NM_001407849.1:c.2207C>T NP_001394778.1:p.Ser736Leu missense NM_001407850.1:c.2210C>T NP_001394779.1:p.Ser737Leu missense NM_001407851.1:c.2210C>T NP_001394780.1:p.Ser737Leu missense NM_001407852.1:c.2210C>T NP_001394781.1:p.Ser737Leu missense NM_001407853.1:c.2138C>T NP_001394782.1:p.Ser713Leu missense NM_001407854.1:c.2351C>T NP_001394783.1:p.Ser784Leu missense NM_001407858.1:c.2351C>T NP_001394787.1:p.Ser784Leu missense NM_001407859.1:c.2351C>T NP_001394788.1:p.Ser784Leu missense NM_001407860.1:c.2348C>T NP_001394789.1:p.Ser783Leu missense NM_001407861.1:c.2348C>T NP_001394790.1:p.Ser783Leu missense NM_001407862.1:c.2150C>T NP_001394791.1:p.Ser717Leu missense NM_001407863.1:c.2228C>T NP_001394792.1:p.Ser743Leu missense NM_001407874.1:c.2147C>T NP_001394803.1:p.Ser716Leu missense NM_001407875.1:c.2147C>T NP_001394804.1:p.Ser716Leu missense NM_001407879.1:c.2141C>T NP_001394808.1:p.Ser714Leu missense NM_001407881.1:c.2141C>T NP_001394810.1:p.Ser714Leu missense NM_001407882.1:c.2141C>T NP_001394811.1:p.Ser714Leu missense NM_001407884.1:c.2141C>T NP_001394813.1:p.Ser714Leu missense NM_001407885.1:c.2141C>T NP_001394814.1:p.Ser714Leu missense NM_001407886.1:c.2141C>T NP_001394815.1:p.Ser714Leu missense NM_001407887.1:c.2141C>T NP_001394816.1:p.Ser714Leu missense NM_001407889.1:c.2141C>T NP_001394818.1:p.Ser714Leu missense NM_001407894.1:c.2138C>T NP_001394823.1:p.Ser713Leu missense NM_001407895.1:c.2138C>T NP_001394824.1:p.Ser713Leu missense NM_001407896.1:c.2138C>T NP_001394825.1:p.Ser713Leu missense NM_001407897.1:c.2138C>T NP_001394826.1:p.Ser713Leu missense NM_001407898.1:c.2138C>T NP_001394827.1:p.Ser713Leu missense NM_001407899.1:c.2138C>T NP_001394828.1:p.Ser713Leu missense NM_001407900.1:c.2141C>T NP_001394829.1:p.Ser714Leu missense NM_001407902.1:c.2141C>T NP_001394831.1:p.Ser714Leu missense NM_001407904.1:c.2141C>T NP_001394833.1:p.Ser714Leu missense NM_001407906.1:c.2141C>T NP_001394835.1:p.Ser714Leu missense NM_001407907.1:c.2141C>T NP_001394836.1:p.Ser714Leu missense NM_001407908.1:c.2141C>T NP_001394837.1:p.Ser714Leu missense NM_001407909.1:c.2141C>T NP_001394838.1:p.Ser714Leu missense NM_001407910.1:c.2141C>T NP_001394839.1:p.Ser714Leu missense NM_001407915.1:c.2138C>T NP_001394844.1:p.Ser713Leu missense NM_001407916.1:c.2138C>T NP_001394845.1:p.Ser713Leu missense NM_001407917.1:c.2138C>T NP_001394846.1:p.Ser713Leu missense NM_001407918.1:c.2138C>T NP_001394847.1:p.Ser713Leu missense NM_001407919.1:c.2228C>T NP_001394848.1:p.Ser743Leu missense NM_001407920.1:c.2087C>T NP_001394849.1:p.Ser696Leu missense NM_001407921.1:c.2087C>T NP_001394850.1:p.Ser696Leu missense NM_001407922.1:c.2087C>T NP_001394851.1:p.Ser696Leu missense NM_001407923.1:c.2087C>T NP_001394852.1:p.Ser696Leu missense NM_001407924.1:c.2087C>T NP_001394853.1:p.Ser696Leu missense NM_001407925.1:c.2087C>T NP_001394854.1:p.Ser696Leu missense NM_001407926.1:c.2087C>T NP_001394855.1:p.Ser696Leu missense NM_001407927.1:c.2087C>T NP_001394856.1:p.Ser696Leu missense NM_001407928.1:c.2087C>T NP_001394857.1:p.Ser696Leu missense NM_001407929.1:c.2087C>T NP_001394858.1:p.Ser696Leu missense NM_001407930.1:c.2084C>T NP_001394859.1:p.Ser695Leu missense NM_001407931.1:c.2084C>T NP_001394860.1:p.Ser695Leu missense NM_001407932.1:c.2084C>T NP_001394861.1:p.Ser695Leu missense NM_001407933.1:c.2087C>T NP_001394862.1:p.Ser696Leu missense NM_001407934.1:c.2084C>T NP_001394863.1:p.Ser695Leu missense NM_001407935.1:c.2087C>T NP_001394864.1:p.Ser696Leu missense NM_001407936.1:c.2084C>T NP_001394865.1:p.Ser695Leu missense NM_001407937.1:c.2228C>T NP_001394866.1:p.Ser743Leu missense NM_001407938.1:c.2228C>T NP_001394867.1:p.Ser743Leu missense NM_001407939.1:c.2228C>T NP_001394868.1:p.Ser743Leu missense NM_001407940.1:c.2225C>T NP_001394869.1:p.Ser742Leu missense NM_001407941.1:c.2225C>T NP_001394870.1:p.Ser742Leu missense NM_001407942.1:c.2210C>T NP_001394871.1:p.Ser737Leu missense NM_001407943.1:c.2207C>T NP_001394872.1:p.Ser736Leu missense NM_001407944.1:c.2210C>T NP_001394873.1:p.Ser737Leu missense NM_001407945.1:c.2210C>T NP_001394874.1:p.Ser737Leu missense NM_001407946.1:c.2018C>T NP_001394875.1:p.Ser673Leu missense NM_001407947.1:c.2018C>T NP_001394876.1:p.Ser673Leu missense NM_001407948.1:c.2018C>T NP_001394877.1:p.Ser673Leu missense NM_001407949.1:c.2018C>T NP_001394878.1:p.Ser673Leu missense NM_001407950.1:c.2018C>T NP_001394879.1:p.Ser673Leu missense NM_001407951.1:c.2018C>T NP_001394880.1:p.Ser673Leu missense NM_001407952.1:c.2018C>T NP_001394881.1:p.Ser673Leu missense NM_001407953.1:c.2018C>T NP_001394882.1:p.Ser673Leu missense NM_001407954.1:c.2015C>T NP_001394883.1:p.Ser672Leu missense NM_001407955.1:c.2015C>T NP_001394884.1:p.Ser672Leu missense NM_001407956.1:c.2015C>T NP_001394885.1:p.Ser672Leu missense NM_001407957.1:c.2018C>T NP_001394886.1:p.Ser673Leu missense NM_001407958.1:c.2015C>T NP_001394887.1:p.Ser672Leu missense NM_001407959.1:c.1970C>T NP_001394888.1:p.Ser657Leu missense NM_001407960.1:c.1970C>T NP_001394889.1:p.Ser657Leu missense NM_001407962.1:c.1967C>T NP_001394891.1:p.Ser656Leu missense NM_001407963.1:c.1970C>T NP_001394892.1:p.Ser657Leu missense NM_001407964.1:c.2207C>T NP_001394893.1:p.Ser736Leu missense NM_001407965.1:c.1847C>T NP_001394894.1:p.Ser616Leu missense NM_001407966.1:c.1463C>T NP_001394895.1:p.Ser488Leu missense NM_001407967.1:c.1463C>T NP_001394896.1:p.Ser488Leu missense NM_001407968.1:c.788-1041C>T intron variant NM_001407969.1:c.788-1041C>T intron variant NM_001407970.1:c.787+1564C>T intron variant NM_001407971.1:c.787+1564C>T intron variant NM_001407972.1:c.784+1564C>T intron variant NM_001407973.1:c.787+1564C>T intron variant NM_001407974.1:c.787+1564C>T intron variant NM_001407975.1:c.787+1564C>T intron variant NM_001407976.1:c.787+1564C>T intron variant NM_001407977.1:c.787+1564C>T intron variant NM_001407978.1:c.787+1564C>T intron variant NM_001407979.1:c.787+1564C>T intron variant NM_001407980.1:c.787+1564C>T intron variant NM_001407981.1:c.787+1564C>T intron variant NM_001407982.1:c.787+1564C>T intron variant NM_001407983.1:c.787+1564C>T intron variant NM_001407984.1:c.784+1564C>T intron variant NM_001407985.1:c.784+1564C>T intron variant NM_001407986.1:c.784+1564C>T intron variant NM_001407990.1:c.787+1564C>T intron variant NM_001407991.1:c.784+1564C>T intron variant NM_001407992.1:c.784+1564C>T intron variant NM_001407993.1:c.787+1564C>T intron variant NM_001408392.1:c.784+1564C>T intron variant NM_001408396.1:c.784+1564C>T intron variant NM_001408397.1:c.784+1564C>T intron variant NM_001408398.1:c.784+1564C>T intron variant NM_001408399.1:c.784+1564C>T intron variant NM_001408400.1:c.784+1564C>T intron variant NM_001408401.1:c.784+1564C>T intron variant NM_001408402.1:c.784+1564C>T intron variant NM_001408403.1:c.787+1564C>T intron variant NM_001408404.1:c.787+1564C>T intron variant NM_001408406.1:c.790+1561C>T intron variant NM_001408407.1:c.784+1564C>T intron variant NM_001408408.1:c.778+1564C>T intron variant NM_001408409.1:c.709+1564C>T intron variant NM_001408410.1:c.646+1564C>T intron variant NM_001408411.1:c.709+1564C>T intron variant NM_001408412.1:c.709+1564C>T intron variant NM_001408413.1:c.706+1564C>T intron variant NM_001408414.1:c.709+1564C>T intron variant NM_001408415.1:c.709+1564C>T intron variant NM_001408416.1:c.706+1564C>T intron variant NM_001408418.1:c.671-2148C>T intron variant NM_001408419.1:c.671-2148C>T intron variant NM_001408420.1:c.671-2148C>T intron variant NM_001408421.1:c.668-2148C>T intron variant NM_001408422.1:c.671-2148C>T intron variant NM_001408423.1:c.671-2148C>T intron variant NM_001408424.1:c.668-2148C>T intron variant NM_001408425.1:c.664+1564C>T intron variant NM_001408426.1:c.664+1564C>T intron variant NM_001408427.1:c.664+1564C>T intron variant NM_001408428.1:c.664+1564C>T intron variant NM_001408429.1:c.664+1564C>T intron variant NM_001408430.1:c.664+1564C>T intron variant NM_001408431.1:c.668-2148C>T intron variant NM_001408432.1:c.661+1564C>T intron variant NM_001408433.1:c.661+1564C>T intron variant NM_001408434.1:c.661+1564C>T intron variant NM_001408435.1:c.661+1564C>T intron variant NM_001408436.1:c.664+1564C>T intron variant NM_001408437.1:c.664+1564C>T intron variant NM_001408438.1:c.664+1564C>T intron variant NM_001408439.1:c.664+1564C>T intron variant NM_001408440.1:c.664+1564C>T intron variant NM_001408441.1:c.664+1564C>T intron variant NM_001408442.1:c.664+1564C>T intron variant NM_001408443.1:c.664+1564C>T intron variant NM_001408444.1:c.664+1564C>T intron variant NM_001408445.1:c.661+1564C>T intron variant NM_001408446.1:c.661+1564C>T intron variant NM_001408447.1:c.661+1564C>T intron variant NM_001408448.1:c.661+1564C>T intron variant NM_001408450.1:c.661+1564C>T intron variant NM_001408451.1:c.652+1564C>T intron variant NM_001408452.1:c.646+1564C>T intron variant NM_001408453.1:c.646+1564C>T intron variant NM_001408454.1:c.646+1564C>T intron variant NM_001408455.1:c.646+1564C>T intron variant NM_001408456.1:c.646+1564C>T intron variant NM_001408457.1:c.646+1564C>T intron variant NM_001408458.1:c.646+1564C>T intron variant NM_001408459.1:c.646+1564C>T intron variant NM_001408460.1:c.646+1564C>T intron variant NM_001408461.1:c.646+1564C>T intron variant NM_001408462.1:c.643+1564C>T intron variant NM_001408463.1:c.643+1564C>T intron variant NM_001408464.1:c.643+1564C>T intron variant NM_001408465.1:c.643+1564C>T intron variant NM_001408466.1:c.646+1564C>T intron variant NM_001408467.1:c.646+1564C>T intron variant NM_001408468.1:c.643+1564C>T intron variant NM_001408469.1:c.646+1564C>T intron variant NM_001408470.1:c.643+1564C>T intron variant NM_001408472.1:c.787+1564C>T intron variant NM_001408473.1:c.784+1564C>T intron variant NM_001408474.1:c.586+1564C>T intron variant NM_001408475.1:c.583+1564C>T intron variant NM_001408476.1:c.586+1564C>T intron variant NM_001408478.1:c.577+1564C>T intron variant NM_001408479.1:c.577+1564C>T intron variant NM_001408480.1:c.577+1564C>T intron variant NM_001408481.1:c.577+1564C>T intron variant NM_001408482.1:c.577+1564C>T intron variant NM_001408483.1:c.577+1564C>T intron variant NM_001408484.1:c.577+1564C>T intron variant NM_001408485.1:c.577+1564C>T intron variant NM_001408489.1:c.577+1564C>T intron variant NM_001408490.1:c.574+1564C>T intron variant NM_001408491.1:c.574+1564C>T intron variant NM_001408492.1:c.577+1564C>T intron variant NM_001408493.1:c.574+1564C>T intron variant NM_001408494.1:c.548-2148C>T intron variant NM_001408495.1:c.545-2148C>T intron variant NM_001408496.1:c.523+1564C>T intron variant NM_001408497.1:c.523+1564C>T intron variant NM_001408498.1:c.523+1564C>T intron variant NM_001408499.1:c.523+1564C>T intron variant NM_001408500.1:c.523+1564C>T intron variant NM_001408501.1:c.523+1564C>T intron variant NM_001408502.1:c.454+1564C>T intron variant NM_001408503.1:c.520+1564C>T intron variant NM_001408504.1:c.520+1564C>T intron variant NM_001408505.1:c.520+1564C>T intron variant NM_001408506.1:c.461-2148C>T intron variant NM_001408507.1:c.461-2148C>T intron variant NM_001408508.1:c.451+1564C>T intron variant NM_001408509.1:c.451+1564C>T intron variant NM_001408510.1:c.406+1564C>T intron variant NM_001408511.1:c.404-2148C>T intron variant NM_001408512.1:c.283+1564C>T intron variant NM_001408513.1:c.577+1564C>T intron variant NM_001408514.1:c.577+1564C>T intron variant NM_007297.4:c.2210C>T NP_009228.2:p.Ser737Leu missense NM_007298.4:c.787+1564C>T intron variant NM_007299.4:c.787+1564C>T intron variant NM_007300.4:c.2351C>T NP_009231.2:p.Ser784Leu missense NR_027676.1:n.2487C>T NC_000017.11:g.43093180G>A NC_000017.10:g.41245197G>A NG_005905.2:g.124804C>T LRG_292:g.124804C>T LRG_292t1:c.2351C>T LRG_292p1:p.Ser784Leu U14680.1:n.2470C>T - Protein change
- S784L, S737L, S656L, S673L, S695L, S713L, S714L, S736L, S742L, S757L, S758L, S616L, S657L, S743L, S783L, S488L, S696L, S716L, S717L, S672L, S781L
- Other names
- p.S784L:TCG>TTG
- Canonical SPDI
- NC_000017.11:43093179:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
0.00020 (A)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00009
1000 Genomes Project 30x 0.00016
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00018
1000 Genomes Project 0.00020
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 |
13019 | 14822 |
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. |
---|---|---|---|---|
Benign (4) |
reviewed by expert panel
|
Jun 18, 2019 | RCV000031045.21 | |
Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Apr 29, 2021 | RCV000131345.16 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Jul 20, 2023 | RCV000587427.25 | |
Likely benign (1) |
criteria provided, single submitter
|
Feb 1, 2024 | RCV001082662.13 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 6, 2024 | RCV001255218.11 | |
Uncertain significance (1) |
no assertion criteria provided
|
- | RCV001356396.10 | |
BRCA1-related disorder
|
Uncertain significance (1) |
criteria provided, single submitter
|
Jun 22, 2023 | RCV004554618.1 |
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. |
|
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Benign
(Jun 18, 2019)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV001161494.2
First in ClinVar: Feb 16, 2020 Last updated: Jan 07, 2023 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 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 1 based on posterior probability = 0.000071 (less)
|
|
Likely benign
(Apr 29, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538111.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
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Uncertain significance
(Dec 18, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000487970.2
First in ClinVar: May 27, 2015 Last updated: Dec 24, 2022 |
|
|
Benign
(Jul 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133525.5
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
|
|
Benign
(Feb 06, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004242834.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
|
|
Likely benign
(Apr 15, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186320.7
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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Benign
(Aug 25, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698944.2
First in ClinVar: Mar 17, 2018 Last updated: Sep 14, 2020 |
Comment:
Variant summary: BRCA1 c.2351C>T (p.Ser784Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Variant summary: BRCA1 c.2351C>T (p.Ser784Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. These in silico predictions have not been verified with functional studies, with one study classifying the variant as benign, based on a homozygous occurrence in a patient derived LCL sample, and therefore using it as a control in the study (Loke_2015). The variant allele was found at a frequency of 0.00018 in 250640 control chromosomes, predominantly at a frequency of 0.0012 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 1.2 fold of the estimated maximal expected allele frequency for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer Syndrome (HBOC) phenotype (0.001), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Latino origin. The variant, c.2351C>T, has been reported in the literature in individuals affected with tumors that belong to the HBOC spectrum, but without strong evidence for causality (e.g. Judkins_2005, McKean-Cowdin_2005, van der Hout_2006, Li_2018, Shao_2019, Abe_2019), moreover, in some of these studies, it was also found in healthy controls (McKean-Cowdin_2005, Li_2018). Co-occurrences with other pathogenic variants have been reported (BRCA1 c.942_956delinsCTTACTTC (p.Arg1315fsX24) and RB1 c.1411C>T (p.Gln471X), in two internal LCA samples), providing supporting evidence for a benign role. In addition, a recent multifactorial likelihood analysis predicted this variant to be Benign (Parsons_2019). Eight other submitters, including an expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as VUS (3x), likely benign (3x), or benign (2x; including the expert panel). Based on the evidence outlined above, the variant was classified as benign. (less)
|
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Likely benign
(Feb 22, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000902866.1
First in ClinVar: May 19, 2019 Last updated: May 19, 2019 |
|
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Likely benign
(May 18, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210129.14
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 16683254, 16267036, 16518693, 12531920, 15726418, 15001988, 25782689, 25652403, 25348012, 15385441)
|
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Uncertain significance
(Jun 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004106584.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The BRCA1 c.2351C>T variant is predicted to result in the amino acid substitution p.Ser784Leu. This patient is heterozygous in the BRCA1 gene for a sequence … (more)
The BRCA1 c.2351C>T variant is predicted to result in the amino acid substitution p.Ser784Leu. This patient is heterozygous in the BRCA1 gene for a sequence variant defined as c.2351C>T, which is predicted to result in the amino acid substitution p.Ser784Leu. This variant has been reported in the Breast Cancer Information Core database (Szabo et al. 2000. PubMed ID: 10923033; Fleming et al. 2003. PubMed ID: 12531920). It has also been reported as a variant of uncertain significance in patients with hereditary breast, ovarian, colon, and/or prostate cancers (McKean-Cowdin et al. 2005. PubMed ID: 15726418; van der Hout et. al 2006. PubMed ID: 16683254; Judkins et al. 2005. PubMed ID: 16267036; Table A3, Abe et al. 2019. PubMed ID: 30883245; Table S2, Shao et al. 2019. PubMed ID: 31742824). Of note, this variant has also been reported in control populations (McKean-Cowdin et al. 2005. PubMed ID: 15726418) and is reported in 0.12% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-41245197-G-A) and is listed in ClinVar with conflicting interpretations of likely benign and uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/37464/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
|
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Likely benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000075822.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
|
|
Likely benign
(Aug 28, 2009)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053639.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001551554.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Ser784Leu variant was identified in 3 of 4154 proband chromosomes (frequency: 0.0007) from individuals or families with hereditary breast and ovarian cancer and … (more)
The BRCA1 p.Ser784Leu variant was identified in 3 of 4154 proband chromosomes (frequency: 0.0007) from individuals or families with hereditary breast and ovarian cancer and was present in 18 of 11,404 control chromosomes (frequency: 0.001) from healthy individuals (McKean-Cowdin 2005,van der Hout 2006, Li 2018, Fernandez-Lopez 2019). The variant was identified in dbSNP (rs55914168) as “with likely pathogenic, other allele”, ClinVar (classified as likely benign by Ambry Genetics, Invitae, Color and 2 other submitters and uncertain significance by GeneDx, Counsyl and 3 other submitters), LOVD 3.0 (observed 15x), UMD-LSDB (observed 2x). The variant was identified in control databases in 45 of 282,304 chromosomes at a frequency of 0.0002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Latino in 43 of 33,396 chromosomes (freq: 0.001, increasing the likelihood this could be a low frequency benign variant), African in 1 of 24,966 chromosomes (freq: 0.00004), European in 1 of 128,600 chromosomes (freq: 0.000008); it was not observed in the Other, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The p.Ser784 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and 1 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
|
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Uncertain significance
(May 29, 2002)
|
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: SCV000144388.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Latin American, Caribbean
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals. | Shao D | Cancer science | 2020 | PMID: 31742824 |
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants. | Cline MS | Human mutation | 2019 | PMID: 31294896 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge. | Padilla N | Human mutation | 2019 | PMID: 31112341 |
Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance. | Abe T | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2019 | PMID: 30883245 |
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. | Li A | Gynecologic oncology | 2018 | PMID: 30078507 |
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. | Vail PJ | Journal of community genetics | 2015 | PMID: 25782689 |
Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. | Loke J | Human molecular genetics | 2015 | PMID: 25652403 |
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations. | Martelotto LG | Genome biology | 2014 | PMID: 25348012 |
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. | Burk-Herrick A | Mammalian genome : official journal of the International Mammalian Genome Society | 2006 | PMID: 16518693 |
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 |
BRCA1 variants in a family study of African-American and Latina women. | McKean-Cowdin R | Human genetics | 2005 | PMID: 15726418 |
Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. | Pavlicek A | Human molecular genetics | 2004 | PMID: 15385441 |
Understanding missense mutations in the BRCA1 gene: an evolutionary approach. | Fleming MA | Proceedings of the National Academy of Sciences of the United States of America | 2003 | PMID: 12531920 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
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Text-mined citations for rs55914168 ...
HelpRecord last updated Sep 17, 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.