ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2354T>A (p.Leu785Ter)
Variation ID: 54545 Accession: VCV000054545.11
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093177 (GRCh38) [ NCBI UCSC ] 17: 41245194 (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 Oct 22, 2016 Feb 28, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2354T>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu785Ter nonsense NM_001407571.1:c.2141T>A NP_001394500.1:p.Leu714Ter nonsense NM_001407581.1:c.2354T>A NP_001394510.1:p.Leu785Ter nonsense NM_001407582.1:c.2354T>A NP_001394511.1:p.Leu785Ter nonsense NM_001407583.1:c.2354T>A NP_001394512.1:p.Leu785Ter nonsense NM_001407585.1:c.2354T>A NP_001394514.1:p.Leu785Ter nonsense NM_001407587.1:c.2351T>A NP_001394516.1:p.Leu784Ter nonsense NM_001407590.1:c.2351T>A NP_001394519.1:p.Leu784Ter nonsense NM_001407591.1:c.2351T>A NP_001394520.1:p.Leu784Ter nonsense NM_001407593.1:c.2354T>A NP_001394522.1:p.Leu785Ter nonsense NM_001407594.1:c.2354T>A NP_001394523.1:p.Leu785Ter nonsense NM_001407596.1:c.2354T>A NP_001394525.1:p.Leu785Ter nonsense NM_001407597.1:c.2354T>A NP_001394526.1:p.Leu785Ter nonsense NM_001407598.1:c.2354T>A NP_001394527.1:p.Leu785Ter nonsense NM_001407602.1:c.2354T>A NP_001394531.1:p.Leu785Ter nonsense NM_001407603.1:c.2354T>A NP_001394532.1:p.Leu785Ter nonsense NM_001407605.1:c.2354T>A NP_001394534.1:p.Leu785Ter nonsense NM_001407610.1:c.2351T>A NP_001394539.1:p.Leu784Ter nonsense NM_001407611.1:c.2351T>A NP_001394540.1:p.Leu784Ter nonsense NM_001407612.1:c.2351T>A NP_001394541.1:p.Leu784Ter nonsense NM_001407613.1:c.2351T>A NP_001394542.1:p.Leu784Ter nonsense NM_001407614.1:c.2351T>A NP_001394543.1:p.Leu784Ter nonsense NM_001407615.1:c.2351T>A NP_001394544.1:p.Leu784Ter nonsense NM_001407616.1:c.2354T>A NP_001394545.1:p.Leu785Ter nonsense NM_001407617.1:c.2354T>A NP_001394546.1:p.Leu785Ter nonsense NM_001407618.1:c.2354T>A NP_001394547.1:p.Leu785Ter nonsense NM_001407619.1:c.2354T>A NP_001394548.1:p.Leu785Ter nonsense NM_001407620.1:c.2354T>A NP_001394549.1:p.Leu785Ter nonsense NM_001407621.1:c.2354T>A NP_001394550.1:p.Leu785Ter nonsense NM_001407622.1:c.2354T>A NP_001394551.1:p.Leu785Ter nonsense NM_001407623.1:c.2354T>A NP_001394552.1:p.Leu785Ter nonsense NM_001407624.1:c.2354T>A NP_001394553.1:p.Leu785Ter nonsense NM_001407625.1:c.2354T>A NP_001394554.1:p.Leu785Ter nonsense NM_001407626.1:c.2354T>A NP_001394555.1:p.Leu785Ter nonsense NM_001407627.1:c.2351T>A NP_001394556.1:p.Leu784Ter nonsense NM_001407628.1:c.2351T>A NP_001394557.1:p.Leu784Ter nonsense NM_001407629.1:c.2351T>A NP_001394558.1:p.Leu784Ter nonsense NM_001407630.1:c.2351T>A NP_001394559.1:p.Leu784Ter nonsense NM_001407631.1:c.2351T>A NP_001394560.1:p.Leu784Ter nonsense NM_001407632.1:c.2351T>A NP_001394561.1:p.Leu784Ter nonsense NM_001407633.1:c.2351T>A NP_001394562.1:p.Leu784Ter nonsense NM_001407634.1:c.2351T>A NP_001394563.1:p.Leu784Ter nonsense NM_001407635.1:c.2351T>A NP_001394564.1:p.Leu784Ter nonsense NM_001407636.1:c.2351T>A NP_001394565.1:p.Leu784Ter nonsense NM_001407637.1:c.2351T>A NP_001394566.1:p.Leu784Ter nonsense NM_001407638.1:c.2351T>A NP_001394567.1:p.Leu784Ter nonsense NM_001407639.1:c.2354T>A NP_001394568.1:p.Leu785Ter nonsense NM_001407640.1:c.2354T>A NP_001394569.1:p.Leu785Ter nonsense NM_001407641.1:c.2354T>A NP_001394570.1:p.Leu785Ter nonsense NM_001407642.1:c.2354T>A NP_001394571.1:p.Leu785Ter nonsense NM_001407644.1:c.2351T>A NP_001394573.1:p.Leu784Ter nonsense NM_001407645.1:c.2351T>A NP_001394574.1:p.Leu784Ter nonsense NM_001407646.1:c.2345T>A NP_001394575.1:p.Leu782Ter nonsense NM_001407647.1:c.2345T>A NP_001394576.1:p.Leu782Ter nonsense NM_001407648.1:c.2231T>A NP_001394577.1:p.Leu744Ter nonsense NM_001407649.1:c.2228T>A NP_001394578.1:p.Leu743Ter nonsense NM_001407652.1:c.2354T>A NP_001394581.1:p.Leu785Ter nonsense NM_001407653.1:c.2276T>A NP_001394582.1:p.Leu759Ter nonsense NM_001407654.1:c.2276T>A NP_001394583.1:p.Leu759Ter nonsense NM_001407655.1:c.2276T>A NP_001394584.1:p.Leu759Ter nonsense NM_001407656.1:c.2276T>A NP_001394585.1:p.Leu759Ter nonsense NM_001407657.1:c.2276T>A NP_001394586.1:p.Leu759Ter nonsense NM_001407658.1:c.2276T>A NP_001394587.1:p.Leu759Ter nonsense NM_001407659.1:c.2273T>A NP_001394588.1:p.Leu758Ter nonsense NM_001407660.1:c.2273T>A NP_001394589.1:p.Leu758Ter nonsense NM_001407661.1:c.2273T>A NP_001394590.1:p.Leu758Ter nonsense NM_001407662.1:c.2273T>A NP_001394591.1:p.Leu758Ter nonsense NM_001407663.1:c.2276T>A NP_001394592.1:p.Leu759Ter nonsense NM_001407664.1:c.2231T>A NP_001394593.1:p.Leu744Ter nonsense NM_001407665.1:c.2231T>A NP_001394594.1:p.Leu744Ter nonsense NM_001407666.1:c.2231T>A NP_001394595.1:p.Leu744Ter nonsense NM_001407667.1:c.2231T>A NP_001394596.1:p.Leu744Ter nonsense NM_001407668.1:c.2231T>A NP_001394597.1:p.Leu744Ter nonsense NM_001407669.1:c.2231T>A NP_001394598.1:p.Leu744Ter nonsense NM_001407670.1:c.2228T>A NP_001394599.1:p.Leu743Ter nonsense NM_001407671.1:c.2228T>A NP_001394600.1:p.Leu743Ter nonsense NM_001407672.1:c.2228T>A NP_001394601.1:p.Leu743Ter nonsense NM_001407673.1:c.2228T>A NP_001394602.1:p.Leu743Ter nonsense NM_001407674.1:c.2231T>A NP_001394603.1:p.Leu744Ter nonsense NM_001407675.1:c.2231T>A NP_001394604.1:p.Leu744Ter nonsense NM_001407676.1:c.2231T>A NP_001394605.1:p.Leu744Ter nonsense NM_001407677.1:c.2231T>A NP_001394606.1:p.Leu744Ter nonsense NM_001407678.1:c.2231T>A NP_001394607.1:p.Leu744Ter nonsense NM_001407679.1:c.2231T>A NP_001394608.1:p.Leu744Ter nonsense NM_001407680.1:c.2231T>A NP_001394609.1:p.Leu744Ter nonsense NM_001407681.1:c.2231T>A NP_001394610.1:p.Leu744Ter nonsense NM_001407682.1:c.2231T>A NP_001394611.1:p.Leu744Ter nonsense NM_001407683.1:c.2231T>A NP_001394612.1:p.Leu744Ter nonsense NM_001407684.1:c.2354T>A NP_001394613.1:p.Leu785Ter nonsense NM_001407685.1:c.2228T>A NP_001394614.1:p.Leu743Ter nonsense NM_001407686.1:c.2228T>A NP_001394615.1:p.Leu743Ter nonsense NM_001407687.1:c.2228T>A NP_001394616.1:p.Leu743Ter nonsense NM_001407688.1:c.2228T>A NP_001394617.1:p.Leu743Ter nonsense NM_001407689.1:c.2228T>A NP_001394618.1:p.Leu743Ter nonsense NM_001407690.1:c.2228T>A NP_001394619.1:p.Leu743Ter nonsense NM_001407691.1:c.2228T>A NP_001394620.1:p.Leu743Ter nonsense NM_001407692.1:c.2213T>A NP_001394621.1:p.Leu738Ter nonsense NM_001407694.1:c.2213T>A NP_001394623.1:p.Leu738Ter nonsense NM_001407695.1:c.2213T>A NP_001394624.1:p.Leu738Ter nonsense NM_001407696.1:c.2213T>A NP_001394625.1:p.Leu738Ter nonsense NM_001407697.1:c.2213T>A NP_001394626.1:p.Leu738Ter nonsense NM_001407698.1:c.2213T>A NP_001394627.1:p.Leu738Ter nonsense NM_001407724.1:c.2213T>A NP_001394653.1:p.Leu738Ter nonsense NM_001407725.1:c.2213T>A NP_001394654.1:p.Leu738Ter nonsense NM_001407726.1:c.2213T>A NP_001394655.1:p.Leu738Ter nonsense NM_001407727.1:c.2213T>A NP_001394656.1:p.Leu738Ter nonsense NM_001407728.1:c.2213T>A NP_001394657.1:p.Leu738Ter nonsense NM_001407729.1:c.2213T>A NP_001394658.1:p.Leu738Ter nonsense NM_001407730.1:c.2213T>A NP_001394659.1:p.Leu738Ter nonsense NM_001407731.1:c.2213T>A NP_001394660.1:p.Leu738Ter nonsense NM_001407732.1:c.2213T>A NP_001394661.1:p.Leu738Ter nonsense NM_001407733.1:c.2213T>A NP_001394662.1:p.Leu738Ter nonsense NM_001407734.1:c.2213T>A NP_001394663.1:p.Leu738Ter nonsense NM_001407735.1:c.2213T>A NP_001394664.1:p.Leu738Ter nonsense NM_001407736.1:c.2213T>A NP_001394665.1:p.Leu738Ter nonsense NM_001407737.1:c.2213T>A NP_001394666.1:p.Leu738Ter nonsense NM_001407738.1:c.2213T>A NP_001394667.1:p.Leu738Ter nonsense NM_001407739.1:c.2213T>A NP_001394668.1:p.Leu738Ter nonsense NM_001407740.1:c.2210T>A NP_001394669.1:p.Leu737Ter nonsense NM_001407741.1:c.2210T>A NP_001394670.1:p.Leu737Ter nonsense NM_001407742.1:c.2210T>A NP_001394671.1:p.Leu737Ter nonsense NM_001407743.1:c.2210T>A NP_001394672.1:p.Leu737Ter nonsense NM_001407744.1:c.2210T>A NP_001394673.1:p.Leu737Ter nonsense NM_001407745.1:c.2210T>A NP_001394674.1:p.Leu737Ter nonsense NM_001407746.1:c.2210T>A NP_001394675.1:p.Leu737Ter nonsense NM_001407747.1:c.2210T>A NP_001394676.1:p.Leu737Ter nonsense NM_001407748.1:c.2210T>A NP_001394677.1:p.Leu737Ter nonsense NM_001407749.1:c.2210T>A NP_001394678.1:p.Leu737Ter nonsense NM_001407750.1:c.2213T>A NP_001394679.1:p.Leu738Ter nonsense NM_001407751.1:c.2213T>A NP_001394680.1:p.Leu738Ter nonsense NM_001407752.1:c.2213T>A NP_001394681.1:p.Leu738Ter nonsense NM_001407838.1:c.2210T>A NP_001394767.1:p.Leu737Ter nonsense NM_001407839.1:c.2210T>A NP_001394768.1:p.Leu737Ter nonsense NM_001407841.1:c.2210T>A NP_001394770.1:p.Leu737Ter nonsense NM_001407842.1:c.2210T>A NP_001394771.1:p.Leu737Ter nonsense NM_001407843.1:c.2210T>A NP_001394772.1:p.Leu737Ter nonsense NM_001407844.1:c.2210T>A NP_001394773.1:p.Leu737Ter nonsense NM_001407845.1:c.2210T>A NP_001394774.1:p.Leu737Ter nonsense NM_001407846.1:c.2210T>A NP_001394775.1:p.Leu737Ter nonsense NM_001407847.1:c.2210T>A NP_001394776.1:p.Leu737Ter nonsense NM_001407848.1:c.2210T>A NP_001394777.1:p.Leu737Ter nonsense NM_001407849.1:c.2210T>A NP_001394778.1:p.Leu737Ter nonsense NM_001407850.1:c.2213T>A NP_001394779.1:p.Leu738Ter nonsense NM_001407851.1:c.2213T>A NP_001394780.1:p.Leu738Ter nonsense NM_001407852.1:c.2213T>A NP_001394781.1:p.Leu738Ter nonsense NM_001407853.1:c.2141T>A NP_001394782.1:p.Leu714Ter nonsense NM_001407854.1:c.2354T>A NP_001394783.1:p.Leu785Ter nonsense NM_001407858.1:c.2354T>A NP_001394787.1:p.Leu785Ter nonsense NM_001407859.1:c.2354T>A NP_001394788.1:p.Leu785Ter nonsense NM_001407860.1:c.2351T>A NP_001394789.1:p.Leu784Ter nonsense NM_001407861.1:c.2351T>A NP_001394790.1:p.Leu784Ter nonsense NM_001407862.1:c.2153T>A NP_001394791.1:p.Leu718Ter nonsense NM_001407863.1:c.2231T>A NP_001394792.1:p.Leu744Ter nonsense NM_001407874.1:c.2150T>A NP_001394803.1:p.Leu717Ter nonsense NM_001407875.1:c.2150T>A NP_001394804.1:p.Leu717Ter nonsense NM_001407879.1:c.2144T>A NP_001394808.1:p.Leu715Ter nonsense NM_001407881.1:c.2144T>A NP_001394810.1:p.Leu715Ter nonsense NM_001407882.1:c.2144T>A NP_001394811.1:p.Leu715Ter nonsense NM_001407884.1:c.2144T>A NP_001394813.1:p.Leu715Ter nonsense NM_001407885.1:c.2144T>A NP_001394814.1:p.Leu715Ter nonsense NM_001407886.1:c.2144T>A NP_001394815.1:p.Leu715Ter nonsense NM_001407887.1:c.2144T>A NP_001394816.1:p.Leu715Ter nonsense NM_001407889.1:c.2144T>A NP_001394818.1:p.Leu715Ter nonsense NM_001407894.1:c.2141T>A NP_001394823.1:p.Leu714Ter nonsense NM_001407895.1:c.2141T>A NP_001394824.1:p.Leu714Ter nonsense NM_001407896.1:c.2141T>A NP_001394825.1:p.Leu714Ter nonsense NM_001407897.1:c.2141T>A NP_001394826.1:p.Leu714Ter nonsense NM_001407898.1:c.2141T>A NP_001394827.1:p.Leu714Ter nonsense NM_001407899.1:c.2141T>A NP_001394828.1:p.Leu714Ter nonsense NM_001407900.1:c.2144T>A NP_001394829.1:p.Leu715Ter nonsense NM_001407902.1:c.2144T>A NP_001394831.1:p.Leu715Ter nonsense NM_001407904.1:c.2144T>A NP_001394833.1:p.Leu715Ter nonsense NM_001407906.1:c.2144T>A NP_001394835.1:p.Leu715Ter nonsense NM_001407907.1:c.2144T>A NP_001394836.1:p.Leu715Ter nonsense NM_001407908.1:c.2144T>A NP_001394837.1:p.Leu715Ter nonsense NM_001407909.1:c.2144T>A NP_001394838.1:p.Leu715Ter nonsense NM_001407910.1:c.2144T>A NP_001394839.1:p.Leu715Ter nonsense NM_001407915.1:c.2141T>A NP_001394844.1:p.Leu714Ter nonsense NM_001407916.1:c.2141T>A NP_001394845.1:p.Leu714Ter nonsense NM_001407917.1:c.2141T>A NP_001394846.1:p.Leu714Ter nonsense NM_001407918.1:c.2141T>A NP_001394847.1:p.Leu714Ter nonsense NM_001407919.1:c.2231T>A NP_001394848.1:p.Leu744Ter nonsense NM_001407920.1:c.2090T>A NP_001394849.1:p.Leu697Ter nonsense NM_001407921.1:c.2090T>A NP_001394850.1:p.Leu697Ter nonsense NM_001407922.1:c.2090T>A NP_001394851.1:p.Leu697Ter nonsense NM_001407923.1:c.2090T>A NP_001394852.1:p.Leu697Ter nonsense NM_001407924.1:c.2090T>A NP_001394853.1:p.Leu697Ter nonsense NM_001407925.1:c.2090T>A NP_001394854.1:p.Leu697Ter nonsense NM_001407926.1:c.2090T>A NP_001394855.1:p.Leu697Ter nonsense NM_001407927.1:c.2090T>A NP_001394856.1:p.Leu697Ter nonsense NM_001407928.1:c.2090T>A NP_001394857.1:p.Leu697Ter nonsense NM_001407929.1:c.2090T>A NP_001394858.1:p.Leu697Ter nonsense NM_001407930.1:c.2087T>A NP_001394859.1:p.Leu696Ter nonsense NM_001407931.1:c.2087T>A NP_001394860.1:p.Leu696Ter nonsense NM_001407932.1:c.2087T>A NP_001394861.1:p.Leu696Ter nonsense NM_001407933.1:c.2090T>A NP_001394862.1:p.Leu697Ter nonsense NM_001407934.1:c.2087T>A NP_001394863.1:p.Leu696Ter nonsense NM_001407935.1:c.2090T>A NP_001394864.1:p.Leu697Ter nonsense NM_001407936.1:c.2087T>A NP_001394865.1:p.Leu696Ter nonsense NM_001407937.1:c.2231T>A NP_001394866.1:p.Leu744Ter nonsense NM_001407938.1:c.2231T>A NP_001394867.1:p.Leu744Ter nonsense NM_001407939.1:c.2231T>A NP_001394868.1:p.Leu744Ter nonsense NM_001407940.1:c.2228T>A NP_001394869.1:p.Leu743Ter nonsense NM_001407941.1:c.2228T>A NP_001394870.1:p.Leu743Ter nonsense NM_001407942.1:c.2213T>A NP_001394871.1:p.Leu738Ter nonsense NM_001407943.1:c.2210T>A NP_001394872.1:p.Leu737Ter nonsense NM_001407944.1:c.2213T>A NP_001394873.1:p.Leu738Ter nonsense NM_001407945.1:c.2213T>A NP_001394874.1:p.Leu738Ter nonsense NM_001407946.1:c.2021T>A NP_001394875.1:p.Leu674Ter nonsense NM_001407947.1:c.2021T>A NP_001394876.1:p.Leu674Ter nonsense NM_001407948.1:c.2021T>A NP_001394877.1:p.Leu674Ter nonsense NM_001407949.1:c.2021T>A NP_001394878.1:p.Leu674Ter nonsense NM_001407950.1:c.2021T>A NP_001394879.1:p.Leu674Ter nonsense NM_001407951.1:c.2021T>A NP_001394880.1:p.Leu674Ter nonsense NM_001407952.1:c.2021T>A NP_001394881.1:p.Leu674Ter nonsense NM_001407953.1:c.2021T>A NP_001394882.1:p.Leu674Ter nonsense NM_001407954.1:c.2018T>A NP_001394883.1:p.Leu673Ter nonsense NM_001407955.1:c.2018T>A NP_001394884.1:p.Leu673Ter nonsense NM_001407956.1:c.2018T>A NP_001394885.1:p.Leu673Ter nonsense NM_001407957.1:c.2021T>A NP_001394886.1:p.Leu674Ter nonsense NM_001407958.1:c.2018T>A NP_001394887.1:p.Leu673Ter nonsense NM_001407959.1:c.1973T>A NP_001394888.1:p.Leu658Ter nonsense NM_001407960.1:c.1973T>A NP_001394889.1:p.Leu658Ter nonsense NM_001407962.1:c.1970T>A NP_001394891.1:p.Leu657Ter nonsense NM_001407963.1:c.1973T>A NP_001394892.1:p.Leu658Ter nonsense NM_001407964.1:c.2210T>A NP_001394893.1:p.Leu737Ter nonsense NM_001407965.1:c.1850T>A NP_001394894.1:p.Leu617Ter nonsense NM_001407966.1:c.1466T>A NP_001394895.1:p.Leu489Ter nonsense NM_001407967.1:c.1466T>A NP_001394896.1:p.Leu489Ter nonsense NM_001407968.1:c.788-1038T>A intron variant NM_001407969.1:c.788-1038T>A intron variant NM_001407970.1:c.787+1567T>A intron variant NM_001407971.1:c.787+1567T>A intron variant NM_001407972.1:c.784+1567T>A intron variant NM_001407973.1:c.787+1567T>A intron variant NM_001407974.1:c.787+1567T>A intron variant NM_001407975.1:c.787+1567T>A intron variant NM_001407976.1:c.787+1567T>A intron variant NM_001407977.1:c.787+1567T>A intron variant NM_001407978.1:c.787+1567T>A intron variant NM_001407979.1:c.787+1567T>A intron variant NM_001407980.1:c.787+1567T>A intron variant NM_001407981.1:c.787+1567T>A intron variant NM_001407982.1:c.787+1567T>A intron variant NM_001407983.1:c.787+1567T>A intron variant NM_001407984.1:c.784+1567T>A intron variant NM_001407985.1:c.784+1567T>A intron variant NM_001407986.1:c.784+1567T>A intron variant NM_001407990.1:c.787+1567T>A intron variant NM_001407991.1:c.784+1567T>A intron variant NM_001407992.1:c.784+1567T>A intron variant NM_001407993.1:c.787+1567T>A intron variant NM_001408392.1:c.784+1567T>A intron variant NM_001408396.1:c.784+1567T>A intron variant NM_001408397.1:c.784+1567T>A intron variant NM_001408398.1:c.784+1567T>A intron variant NM_001408399.1:c.784+1567T>A intron variant NM_001408400.1:c.784+1567T>A intron variant NM_001408401.1:c.784+1567T>A intron variant NM_001408402.1:c.784+1567T>A intron variant NM_001408403.1:c.787+1567T>A intron variant NM_001408404.1:c.787+1567T>A intron variant NM_001408406.1:c.790+1564T>A intron variant NM_001408407.1:c.784+1567T>A intron variant NM_001408408.1:c.778+1567T>A intron variant NM_001408409.1:c.709+1567T>A intron variant NM_001408410.1:c.646+1567T>A intron variant NM_001408411.1:c.709+1567T>A intron variant NM_001408412.1:c.709+1567T>A intron variant NM_001408413.1:c.706+1567T>A intron variant NM_001408414.1:c.709+1567T>A intron variant NM_001408415.1:c.709+1567T>A intron variant NM_001408416.1:c.706+1567T>A intron variant NM_001408418.1:c.671-2145T>A intron variant NM_001408419.1:c.671-2145T>A intron variant NM_001408420.1:c.671-2145T>A intron variant NM_001408421.1:c.668-2145T>A intron variant NM_001408422.1:c.671-2145T>A intron variant NM_001408423.1:c.671-2145T>A intron variant NM_001408424.1:c.668-2145T>A intron variant NM_001408425.1:c.664+1567T>A intron variant NM_001408426.1:c.664+1567T>A intron variant NM_001408427.1:c.664+1567T>A intron variant NM_001408428.1:c.664+1567T>A intron variant NM_001408429.1:c.664+1567T>A intron variant NM_001408430.1:c.664+1567T>A intron variant NM_001408431.1:c.668-2145T>A intron variant NM_001408432.1:c.661+1567T>A intron variant NM_001408433.1:c.661+1567T>A intron variant NM_001408434.1:c.661+1567T>A intron variant NM_001408435.1:c.661+1567T>A intron variant NM_001408436.1:c.664+1567T>A intron variant NM_001408437.1:c.664+1567T>A intron variant NM_001408438.1:c.664+1567T>A intron variant NM_001408439.1:c.664+1567T>A intron variant NM_001408440.1:c.664+1567T>A intron variant NM_001408441.1:c.664+1567T>A intron variant NM_001408442.1:c.664+1567T>A intron variant NM_001408443.1:c.664+1567T>A intron variant NM_001408444.1:c.664+1567T>A intron variant NM_001408445.1:c.661+1567T>A intron variant NM_001408446.1:c.661+1567T>A intron variant NM_001408447.1:c.661+1567T>A intron variant NM_001408448.1:c.661+1567T>A intron variant NM_001408450.1:c.661+1567T>A intron variant NM_001408451.1:c.652+1567T>A intron variant NM_001408452.1:c.646+1567T>A intron variant NM_001408453.1:c.646+1567T>A intron variant NM_001408454.1:c.646+1567T>A intron variant NM_001408455.1:c.646+1567T>A intron variant NM_001408456.1:c.646+1567T>A intron variant NM_001408457.1:c.646+1567T>A intron variant NM_001408458.1:c.646+1567T>A intron variant NM_001408459.1:c.646+1567T>A intron variant NM_001408460.1:c.646+1567T>A intron variant NM_001408461.1:c.646+1567T>A intron variant NM_001408462.1:c.643+1567T>A intron variant NM_001408463.1:c.643+1567T>A intron variant NM_001408464.1:c.643+1567T>A intron variant NM_001408465.1:c.643+1567T>A intron variant NM_001408466.1:c.646+1567T>A intron variant NM_001408467.1:c.646+1567T>A intron variant NM_001408468.1:c.643+1567T>A intron variant NM_001408469.1:c.646+1567T>A intron variant NM_001408470.1:c.643+1567T>A intron variant NM_001408472.1:c.787+1567T>A intron variant NM_001408473.1:c.784+1567T>A intron variant NM_001408474.1:c.586+1567T>A intron variant NM_001408475.1:c.583+1567T>A intron variant NM_001408476.1:c.586+1567T>A intron variant NM_001408478.1:c.577+1567T>A intron variant NM_001408479.1:c.577+1567T>A intron variant NM_001408480.1:c.577+1567T>A intron variant NM_001408481.1:c.577+1567T>A intron variant NM_001408482.1:c.577+1567T>A intron variant NM_001408483.1:c.577+1567T>A intron variant NM_001408484.1:c.577+1567T>A intron variant NM_001408485.1:c.577+1567T>A intron variant NM_001408489.1:c.577+1567T>A intron variant NM_001408490.1:c.574+1567T>A intron variant NM_001408491.1:c.574+1567T>A intron variant NM_001408492.1:c.577+1567T>A intron variant NM_001408493.1:c.574+1567T>A intron variant NM_001408494.1:c.548-2145T>A intron variant NM_001408495.1:c.545-2145T>A intron variant NM_001408496.1:c.523+1567T>A intron variant NM_001408497.1:c.523+1567T>A intron variant NM_001408498.1:c.523+1567T>A intron variant NM_001408499.1:c.523+1567T>A intron variant NM_001408500.1:c.523+1567T>A intron variant NM_001408501.1:c.523+1567T>A intron variant NM_001408502.1:c.454+1567T>A intron variant NM_001408503.1:c.520+1567T>A intron variant NM_001408504.1:c.520+1567T>A intron variant NM_001408505.1:c.520+1567T>A intron variant NM_001408506.1:c.461-2145T>A intron variant NM_001408507.1:c.461-2145T>A intron variant NM_001408508.1:c.451+1567T>A intron variant NM_001408509.1:c.451+1567T>A intron variant NM_001408510.1:c.406+1567T>A intron variant NM_001408511.1:c.404-2145T>A intron variant NM_001408512.1:c.283+1567T>A intron variant NM_001408513.1:c.577+1567T>A intron variant NM_001408514.1:c.577+1567T>A intron variant NM_007297.4:c.2213T>A NP_009228.2:p.Leu738Ter nonsense NM_007298.4:c.787+1567T>A intron variant NM_007299.4:c.787+1567T>A intron variant NM_007300.4:c.2354T>A NP_009231.2:p.Leu785Ter nonsense NR_027676.1:n.2490T>A NC_000017.11:g.43093177A>T NC_000017.10:g.41245194A>T NG_005905.2:g.124807T>A LRG_292:g.124807T>A LRG_292t1:c.2354T>A LRG_292p1:p.Leu785Ter - Protein change
- L785*, L738*, L658*, L673*, L674*, L717*, L718*, L737*, L758*, L489*, L617*, L784*, L657*, L715*, L759*, L696*, L697*, L714*, L743*, L744*, L782*
- Other names
- 2473T>A
- Canonical SPDI
- NC_000017.11:43093176:A:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12795 | 14565 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (1) |
criteria provided, single submitter
|
Aug 3, 2023 | RCV000047811.16 | |
Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257066.13 |
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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Pathogenic
(Oct 18, 2016)
|
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: SCV000323444.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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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
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325331.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Aug 03, 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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Invitae
Accession: SCV000075824.9
First in ClinVar: Jul 03, 2013 Last updated: Feb 28, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54545). This premature translational stop signal … (more)
For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54545). This premature translational stop signal has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 22798144, 25863477, 28111427, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu785*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). (less)
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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 |
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. | Park JS | Cancer research and treatment | 2017 | PMID: 28111427 |
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | Kang E | Breast cancer research and treatment | 2015 | PMID: 25863477 |
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. | Kim H | Breast cancer research and treatment | 2012 | PMID: 22798144 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs397508961 ...
HelpRecord last updated Apr 20, 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.