Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2518del (p.Ser840fs)
Germline
Reviewed by expert panel
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Reviewed by expert panel. Learn more about how ClinVar calculates review status.
Pathogenic
for
Breast-ovarian cancer, familial, susceptibility to, 1
Classification is based on the expert panel submission
Oct 2016 by
Evidence-based Network for the Interpretation of Germline M…
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The classification is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.2518del (p.Ser840fs)
Variation ID: 54590 Accession: VCV000054590.7
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43093013 (GRCh38) [ NCBI UCSC ] 17: 41245030 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 7, 2023 Oct 18, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2518del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser840fs frameshift NM_001407571.1:c.2305del NP_001394500.1:p.Ser769fs frameshift NM_001407581.1:c.2518del NP_001394510.1:p.Ser840fs frameshift NM_001407582.1:c.2518del NP_001394511.1:p.Ser840fs frameshift NM_001407583.1:c.2518del NP_001394512.1:p.Ser840fs frameshift NM_001407585.1:c.2518del NP_001394514.1:p.Ser840fs frameshift NM_001407587.1:c.2515del NP_001394516.1:p.Ser839fs frameshift NM_001407590.1:c.2515del NP_001394519.1:p.Ser839fs frameshift NM_001407591.1:c.2515del NP_001394520.1:p.Ser839fs frameshift NM_001407593.1:c.2518del NP_001394522.1:p.Ser840fs frameshift NM_001407594.1:c.2518del NP_001394523.1:p.Ser840fs frameshift NM_001407596.1:c.2518del NP_001394525.1:p.Ser840fs frameshift NM_001407597.1:c.2518del NP_001394526.1:p.Ser840fs frameshift NM_001407598.1:c.2518del NP_001394527.1:p.Ser840fs frameshift NM_001407602.1:c.2518del NP_001394531.1:p.Ser840fs frameshift NM_001407603.1:c.2518del NP_001394532.1:p.Ser840fs frameshift NM_001407605.1:c.2518del NP_001394534.1:p.Ser840fs frameshift NM_001407610.1:c.2515del NP_001394539.1:p.Ser839fs frameshift NM_001407611.1:c.2515del NP_001394540.1:p.Ser839fs frameshift NM_001407612.1:c.2515del NP_001394541.1:p.Ser839fs frameshift NM_001407613.1:c.2515del NP_001394542.1:p.Ser839fs frameshift NM_001407614.1:c.2515del NP_001394543.1:p.Ser839fs frameshift NM_001407615.1:c.2515del NP_001394544.1:p.Ser839fs frameshift NM_001407616.1:c.2518del NP_001394545.1:p.Ser840fs frameshift NM_001407617.1:c.2518del NP_001394546.1:p.Ser840fs frameshift NM_001407618.1:c.2518del NP_001394547.1:p.Ser840fs frameshift NM_001407619.1:c.2518del NP_001394548.1:p.Ser840fs frameshift NM_001407620.1:c.2518del NP_001394549.1:p.Ser840fs frameshift NM_001407621.1:c.2518del NP_001394550.1:p.Ser840fs frameshift NM_001407622.1:c.2518del NP_001394551.1:p.Ser840fs frameshift NM_001407623.1:c.2518del NP_001394552.1:p.Ser840fs frameshift NM_001407624.1:c.2518del NP_001394553.1:p.Ser840fs frameshift NM_001407625.1:c.2518del NP_001394554.1:p.Ser840fs frameshift NM_001407626.1:c.2518del NP_001394555.1:p.Ser840fs frameshift NM_001407627.1:c.2515del NP_001394556.1:p.Ser839fs frameshift NM_001407628.1:c.2515del NP_001394557.1:p.Ser839fs frameshift NM_001407629.1:c.2515del NP_001394558.1:p.Ser839fs frameshift NM_001407630.1:c.2515del NP_001394559.1:p.Ser839fs frameshift NM_001407631.1:c.2515del NP_001394560.1:p.Ser839fs frameshift NM_001407632.1:c.2515del NP_001394561.1:p.Ser839fs frameshift NM_001407633.1:c.2515del NP_001394562.1:p.Ser839fs frameshift NM_001407634.1:c.2515del NP_001394563.1:p.Ser839fs frameshift NM_001407635.1:c.2515del NP_001394564.1:p.Ser839fs frameshift NM_001407636.1:c.2515del NP_001394565.1:p.Ser839fs frameshift NM_001407637.1:c.2515del NP_001394566.1:p.Ser839fs frameshift NM_001407638.1:c.2515del NP_001394567.1:p.Ser839fs frameshift NM_001407639.1:c.2518del NP_001394568.1:p.Ser840fs frameshift NM_001407640.1:c.2518del NP_001394569.1:p.Ser840fs frameshift NM_001407641.1:c.2518del NP_001394570.1:p.Ser840fs frameshift NM_001407642.1:c.2518del NP_001394571.1:p.Ser840fs frameshift NM_001407644.1:c.2515del NP_001394573.1:p.Ser839fs frameshift NM_001407645.1:c.2515del NP_001394574.1:p.Ser839fs frameshift NM_001407646.1:c.2509del NP_001394575.1:p.Ser837fs frameshift NM_001407647.1:c.2509del NP_001394576.1:p.Ser837fs frameshift NM_001407648.1:c.2395del NP_001394577.1:p.Ser799fs frameshift NM_001407649.1:c.2392del NP_001394578.1:p.Ser798fs frameshift NM_001407652.1:c.2518del NP_001394581.1:p.Ser840fs frameshift NM_001407653.1:c.2440del NP_001394582.1:p.Ser814fs frameshift NM_001407654.1:c.2440del NP_001394583.1:p.Ser814fs frameshift NM_001407655.1:c.2440del NP_001394584.1:p.Ser814fs frameshift NM_001407656.1:c.2440del NP_001394585.1:p.Ser814fs frameshift NM_001407657.1:c.2440del NP_001394586.1:p.Ser814fs frameshift NM_001407658.1:c.2440del NP_001394587.1:p.Ser814fs frameshift NM_001407659.1:c.2437del NP_001394588.1:p.Ser813fs frameshift NM_001407660.1:c.2437del NP_001394589.1:p.Ser813fs frameshift NM_001407661.1:c.2437del NP_001394590.1:p.Ser813fs frameshift NM_001407662.1:c.2437del NP_001394591.1:p.Ser813fs frameshift NM_001407663.1:c.2440del NP_001394592.1:p.Ser814fs frameshift NM_001407664.1:c.2395del NP_001394593.1:p.Ser799fs frameshift NM_001407665.1:c.2395del NP_001394594.1:p.Ser799fs frameshift NM_001407666.1:c.2395del NP_001394595.1:p.Ser799fs frameshift NM_001407667.1:c.2395del NP_001394596.1:p.Ser799fs frameshift NM_001407668.1:c.2395del NP_001394597.1:p.Ser799fs frameshift NM_001407669.1:c.2395del NP_001394598.1:p.Ser799fs frameshift NM_001407670.1:c.2392del NP_001394599.1:p.Ser798fs frameshift NM_001407671.1:c.2392del NP_001394600.1:p.Ser798fs frameshift NM_001407672.1:c.2392del NP_001394601.1:p.Ser798fs frameshift NM_001407673.1:c.2392del NP_001394602.1:p.Ser798fs frameshift NM_001407674.1:c.2395del NP_001394603.1:p.Ser799fs frameshift NM_001407675.1:c.2395del NP_001394604.1:p.Ser799fs frameshift NM_001407676.1:c.2395del NP_001394605.1:p.Ser799fs frameshift NM_001407677.1:c.2395del NP_001394606.1:p.Ser799fs frameshift NM_001407678.1:c.2395del NP_001394607.1:p.Ser799fs frameshift NM_001407679.1:c.2395del NP_001394608.1:p.Ser799fs frameshift NM_001407680.1:c.2395del NP_001394609.1:p.Ser799fs frameshift NM_001407681.1:c.2395del NP_001394610.1:p.Ser799fs frameshift NM_001407682.1:c.2395del NP_001394611.1:p.Ser799fs frameshift NM_001407683.1:c.2395del NP_001394612.1:p.Ser799fs frameshift NM_001407684.1:c.2518del NP_001394613.1:p.Ser840fs frameshift NM_001407685.1:c.2392del NP_001394614.1:p.Ser798fs frameshift NM_001407686.1:c.2392del NP_001394615.1:p.Ser798fs frameshift NM_001407687.1:c.2392del NP_001394616.1:p.Ser798fs frameshift NM_001407688.1:c.2392del NP_001394617.1:p.Ser798fs frameshift NM_001407689.1:c.2392del NP_001394618.1:p.Ser798fs frameshift NM_001407690.1:c.2392del NP_001394619.1:p.Ser798fs frameshift NM_001407691.1:c.2392del NP_001394620.1:p.Ser798fs frameshift NM_001407692.1:c.2377del NP_001394621.1:p.Ser793fs frameshift NM_001407694.1:c.2377del NP_001394623.1:p.Ser793fs frameshift NM_001407695.1:c.2377del NP_001394624.1:p.Ser793fs frameshift NM_001407696.1:c.2377del NP_001394625.1:p.Ser793fs frameshift NM_001407697.1:c.2377del NP_001394626.1:p.Ser793fs frameshift NM_001407698.1:c.2377del NP_001394627.1:p.Ser793fs frameshift NM_001407724.1:c.2377del NP_001394653.1:p.Ser793fs frameshift NM_001407725.1:c.2377del NP_001394654.1:p.Ser793fs frameshift NM_001407726.1:c.2377del NP_001394655.1:p.Ser793fs frameshift NM_001407727.1:c.2377del NP_001394656.1:p.Ser793fs frameshift NM_001407728.1:c.2377del NP_001394657.1:p.Ser793fs frameshift NM_001407729.1:c.2377del NP_001394658.1:p.Ser793fs frameshift NM_001407730.1:c.2377del NP_001394659.1:p.Ser793fs frameshift NM_001407731.1:c.2377del NP_001394660.1:p.Ser793fs frameshift NM_001407732.1:c.2377del NP_001394661.1:p.Ser793fs frameshift NM_001407733.1:c.2377del NP_001394662.1:p.Ser793fs frameshift NM_001407734.1:c.2377del NP_001394663.1:p.Ser793fs frameshift NM_001407735.1:c.2377del NP_001394664.1:p.Ser793fs frameshift NM_001407736.1:c.2377del NP_001394665.1:p.Ser793fs frameshift NM_001407737.1:c.2377del NP_001394666.1:p.Ser793fs frameshift NM_001407738.1:c.2377del NP_001394667.1:p.Ser793fs frameshift NM_001407739.1:c.2377del NP_001394668.1:p.Ser793fs frameshift NM_001407740.1:c.2374del NP_001394669.1:p.Ser792fs frameshift NM_001407741.1:c.2374del NP_001394670.1:p.Ser792fs frameshift NM_001407742.1:c.2374del NP_001394671.1:p.Ser792fs frameshift NM_001407743.1:c.2374del NP_001394672.1:p.Ser792fs frameshift NM_001407744.1:c.2374del NP_001394673.1:p.Ser792fs frameshift NM_001407745.1:c.2374del NP_001394674.1:p.Ser792fs frameshift NM_001407746.1:c.2374del NP_001394675.1:p.Ser792fs frameshift NM_001407747.1:c.2374del NP_001394676.1:p.Ser792fs frameshift NM_001407748.1:c.2374del NP_001394677.1:p.Ser792fs frameshift NM_001407749.1:c.2374del NP_001394678.1:p.Ser792fs frameshift NM_001407750.1:c.2377del NP_001394679.1:p.Ser793fs frameshift NM_001407751.1:c.2377del NP_001394680.1:p.Ser793fs frameshift NM_001407752.1:c.2377del NP_001394681.1:p.Ser793fs frameshift NM_001407838.1:c.2374del NP_001394767.1:p.Ser792fs frameshift NM_001407839.1:c.2374del NP_001394768.1:p.Ser792fs frameshift NM_001407841.1:c.2374del NP_001394770.1:p.Ser792fs frameshift NM_001407842.1:c.2374del NP_001394771.1:p.Ser792fs frameshift NM_001407843.1:c.2374del NP_001394772.1:p.Ser792fs frameshift NM_001407844.1:c.2374del NP_001394773.1:p.Ser792fs frameshift NM_001407845.1:c.2374del NP_001394774.1:p.Ser792fs frameshift NM_001407846.1:c.2374del NP_001394775.1:p.Ser792fs frameshift NM_001407847.1:c.2374del NP_001394776.1:p.Ser792fs frameshift NM_001407848.1:c.2374del NP_001394777.1:p.Ser792fs frameshift NM_001407849.1:c.2374del NP_001394778.1:p.Ser792fs frameshift NM_001407850.1:c.2377del NP_001394779.1:p.Ser793fs frameshift NM_001407851.1:c.2377del NP_001394780.1:p.Ser793fs frameshift NM_001407852.1:c.2377del NP_001394781.1:p.Ser793fs frameshift NM_001407853.1:c.2305del NP_001394782.1:p.Ser769fs frameshift NM_001407854.1:c.2518del NP_001394783.1:p.Ser840fs frameshift NM_001407858.1:c.2518del NP_001394787.1:p.Ser840fs frameshift NM_001407859.1:c.2518del NP_001394788.1:p.Ser840fs frameshift NM_001407860.1:c.2515del NP_001394789.1:p.Ser839fs frameshift NM_001407861.1:c.2515del NP_001394790.1:p.Ser839fs frameshift NM_001407862.1:c.2317del NP_001394791.1:p.Ser773fs frameshift NM_001407863.1:c.2395del NP_001394792.1:p.Ser799fs frameshift NM_001407874.1:c.2314del NP_001394803.1:p.Ser772fs frameshift NM_001407875.1:c.2314del NP_001394804.1:p.Ser772fs frameshift NM_001407879.1:c.2308del NP_001394808.1:p.Ser770fs frameshift NM_001407881.1:c.2308del NP_001394810.1:p.Ser770fs frameshift NM_001407882.1:c.2308del NP_001394811.1:p.Ser770fs frameshift NM_001407884.1:c.2308del NP_001394813.1:p.Ser770fs frameshift NM_001407885.1:c.2308del NP_001394814.1:p.Ser770fs frameshift NM_001407886.1:c.2308del NP_001394815.1:p.Ser770fs frameshift NM_001407887.1:c.2308del NP_001394816.1:p.Ser770fs frameshift NM_001407889.1:c.2308del NP_001394818.1:p.Ser770fs frameshift NM_001407894.1:c.2305del NP_001394823.1:p.Ser769fs frameshift NM_001407895.1:c.2305del NP_001394824.1:p.Ser769fs frameshift NM_001407896.1:c.2305del NP_001394825.1:p.Ser769fs frameshift NM_001407897.1:c.2305del NP_001394826.1:p.Ser769fs frameshift NM_001407898.1:c.2305del NP_001394827.1:p.Ser769fs frameshift NM_001407899.1:c.2305del NP_001394828.1:p.Ser769fs frameshift NM_001407900.1:c.2308del NP_001394829.1:p.Ser770fs frameshift NM_001407902.1:c.2308del NP_001394831.1:p.Ser770fs frameshift NM_001407904.1:c.2308del NP_001394833.1:p.Ser770fs frameshift NM_001407906.1:c.2308del NP_001394835.1:p.Ser770fs frameshift NM_001407907.1:c.2308del NP_001394836.1:p.Ser770fs frameshift NM_001407908.1:c.2308del NP_001394837.1:p.Ser770fs frameshift NM_001407909.1:c.2308del NP_001394838.1:p.Ser770fs frameshift NM_001407910.1:c.2308del NP_001394839.1:p.Ser770fs frameshift NM_001407915.1:c.2305del NP_001394844.1:p.Ser769fs frameshift NM_001407916.1:c.2305del NP_001394845.1:p.Ser769fs frameshift NM_001407917.1:c.2305del NP_001394846.1:p.Ser769fs frameshift NM_001407918.1:c.2305del NP_001394847.1:p.Ser769fs frameshift NM_001407919.1:c.2395del NP_001394848.1:p.Ser799fs frameshift NM_001407920.1:c.2254del NP_001394849.1:p.Ser752fs frameshift NM_001407921.1:c.2254del NP_001394850.1:p.Ser752fs frameshift NM_001407922.1:c.2254del NP_001394851.1:p.Ser752fs frameshift NM_001407923.1:c.2254del NP_001394852.1:p.Ser752fs frameshift NM_001407924.1:c.2254del NP_001394853.1:p.Ser752fs frameshift NM_001407925.1:c.2254del NP_001394854.1:p.Ser752fs frameshift NM_001407926.1:c.2254del NP_001394855.1:p.Ser752fs frameshift NM_001407927.1:c.2254del NP_001394856.1:p.Ser752fs frameshift NM_001407928.1:c.2254del NP_001394857.1:p.Ser752fs frameshift NM_001407929.1:c.2254del NP_001394858.1:p.Ser752fs frameshift NM_001407930.1:c.2251del NP_001394859.1:p.Ser751fs frameshift NM_001407931.1:c.2251del NP_001394860.1:p.Ser751fs frameshift NM_001407932.1:c.2251del NP_001394861.1:p.Ser751fs frameshift NM_001407933.1:c.2254del NP_001394862.1:p.Ser752fs frameshift NM_001407934.1:c.2251del NP_001394863.1:p.Ser751fs frameshift NM_001407935.1:c.2254del NP_001394864.1:p.Ser752fs frameshift NM_001407936.1:c.2251del NP_001394865.1:p.Ser751fs frameshift NM_001407937.1:c.2395del NP_001394866.1:p.Ser799fs frameshift NM_001407938.1:c.2395del NP_001394867.1:p.Ser799fs frameshift NM_001407939.1:c.2395del NP_001394868.1:p.Ser799fs frameshift NM_001407940.1:c.2392del NP_001394869.1:p.Ser798fs frameshift NM_001407941.1:c.2392del NP_001394870.1:p.Ser798fs frameshift NM_001407942.1:c.2377del NP_001394871.1:p.Ser793fs frameshift NM_001407943.1:c.2374del NP_001394872.1:p.Ser792fs frameshift NM_001407944.1:c.2377del NP_001394873.1:p.Ser793fs frameshift NM_001407945.1:c.2377del NP_001394874.1:p.Ser793fs frameshift NM_001407946.1:c.2185del NP_001394875.1:p.Ser729fs frameshift NM_001407947.1:c.2185del NP_001394876.1:p.Ser729fs frameshift NM_001407948.1:c.2185del NP_001394877.1:p.Ser729fs frameshift NM_001407949.1:c.2185del NP_001394878.1:p.Ser729fs frameshift NM_001407950.1:c.2185del NP_001394879.1:p.Ser729fs frameshift NM_001407951.1:c.2185del NP_001394880.1:p.Ser729fs frameshift NM_001407952.1:c.2185del NP_001394881.1:p.Ser729fs frameshift NM_001407953.1:c.2185del NP_001394882.1:p.Ser729fs frameshift NM_001407954.1:c.2182del NP_001394883.1:p.Ser728fs frameshift NM_001407955.1:c.2182del NP_001394884.1:p.Ser728fs frameshift NM_001407956.1:c.2182del NP_001394885.1:p.Ser728fs frameshift NM_001407957.1:c.2185del NP_001394886.1:p.Ser729fs frameshift NM_001407958.1:c.2182del NP_001394887.1:p.Ser728fs frameshift NM_001407959.1:c.2137del NP_001394888.1:p.Ser713fs frameshift NM_001407960.1:c.2137del NP_001394889.1:p.Ser713fs frameshift NM_001407962.1:c.2134del NP_001394891.1:p.Ser712fs frameshift NM_001407963.1:c.2137del NP_001394892.1:p.Ser713fs frameshift NM_001407964.1:c.2374del NP_001394893.1:p.Ser792fs frameshift NM_001407965.1:c.2014del NP_001394894.1:p.Ser672fs frameshift NM_001407966.1:c.1630del NP_001394895.1:p.Ser544fs frameshift NM_001407967.1:c.1630del NP_001394896.1:p.Ser544fs frameshift NM_001407968.1:c.788-874del intron variant NM_001407969.1:c.788-874del intron variant NM_001407970.1:c.787+1731del intron variant NM_001407971.1:c.787+1731del intron variant NM_001407972.1:c.784+1731del intron variant NM_001407973.1:c.787+1731del intron variant NM_001407974.1:c.787+1731del intron variant NM_001407975.1:c.787+1731del intron variant NM_001407976.1:c.787+1731del intron variant NM_001407977.1:c.787+1731del intron variant NM_001407978.1:c.787+1731del intron variant NM_001407979.1:c.787+1731del intron variant NM_001407980.1:c.787+1731del intron variant NM_001407981.1:c.787+1731del intron variant NM_001407982.1:c.787+1731del intron variant NM_001407983.1:c.787+1731del intron variant NM_001407984.1:c.784+1731del intron variant NM_001407985.1:c.784+1731del intron variant NM_001407986.1:c.784+1731del intron variant NM_001407990.1:c.787+1731del intron variant NM_001407991.1:c.784+1731del intron variant NM_001407992.1:c.784+1731del intron variant NM_001407993.1:c.787+1731del intron variant NM_001408392.1:c.784+1731del intron variant NM_001408396.1:c.784+1731del intron variant NM_001408397.1:c.784+1731del intron variant NM_001408398.1:c.784+1731del intron variant NM_001408399.1:c.784+1731del intron variant NM_001408400.1:c.784+1731del intron variant NM_001408401.1:c.784+1731del intron variant NM_001408402.1:c.784+1731del intron variant NM_001408403.1:c.787+1731del intron variant NM_001408404.1:c.787+1731del intron variant NM_001408406.1:c.790+1728del intron variant NM_001408407.1:c.784+1731del intron variant NM_001408408.1:c.778+1731del intron variant NM_001408409.1:c.709+1731del intron variant NM_001408410.1:c.646+1731del intron variant NM_001408411.1:c.709+1731del intron variant NM_001408412.1:c.709+1731del intron variant NM_001408413.1:c.706+1731del intron variant NM_001408414.1:c.709+1731del intron variant NM_001408415.1:c.709+1731del intron variant NM_001408416.1:c.706+1731del intron variant NM_001408418.1:c.671-1981del intron variant NM_001408419.1:c.671-1981del intron variant NM_001408420.1:c.671-1981del intron variant NM_001408421.1:c.668-1981del intron variant NM_001408422.1:c.671-1981del intron variant NM_001408423.1:c.671-1981del intron variant NM_001408424.1:c.668-1981del intron variant NM_001408425.1:c.664+1731del intron variant NM_001408426.1:c.664+1731del intron variant NM_001408427.1:c.664+1731del intron variant NM_001408428.1:c.664+1731del intron variant NM_001408429.1:c.664+1731del intron variant NM_001408430.1:c.664+1731del intron variant NM_001408431.1:c.668-1981del intron variant NM_001408432.1:c.661+1731del intron variant NM_001408433.1:c.661+1731del intron variant NM_001408434.1:c.661+1731del intron variant NM_001408435.1:c.661+1731del intron variant NM_001408436.1:c.664+1731del intron variant NM_001408437.1:c.664+1731del intron variant NM_001408438.1:c.664+1731del intron variant NM_001408439.1:c.664+1731del intron variant NM_001408440.1:c.664+1731del intron variant NM_001408441.1:c.664+1731del intron variant NM_001408442.1:c.664+1731del intron variant NM_001408443.1:c.664+1731del intron variant NM_001408444.1:c.664+1731del intron variant NM_001408445.1:c.661+1731del intron variant NM_001408446.1:c.661+1731del intron variant NM_001408447.1:c.661+1731del intron variant NM_001408448.1:c.661+1731del intron variant NM_001408450.1:c.661+1731del intron variant NM_001408451.1:c.652+1731del intron variant NM_001408452.1:c.646+1731del intron variant NM_001408453.1:c.646+1731del intron variant NM_001408454.1:c.646+1731del intron variant NM_001408455.1:c.646+1731del intron variant NM_001408456.1:c.646+1731del intron variant NM_001408457.1:c.646+1731del intron variant NM_001408458.1:c.646+1731del intron variant NM_001408459.1:c.646+1731del intron variant NM_001408460.1:c.646+1731del intron variant NM_001408461.1:c.646+1731del intron variant NM_001408462.1:c.643+1731del intron variant NM_001408463.1:c.643+1731del intron variant NM_001408464.1:c.643+1731del intron variant NM_001408465.1:c.643+1731del intron variant NM_001408466.1:c.646+1731del intron variant NM_001408467.1:c.646+1731del intron variant NM_001408468.1:c.643+1731del intron variant NM_001408469.1:c.646+1731del intron variant NM_001408470.1:c.643+1731del intron variant NM_001408472.1:c.787+1731del intron variant NM_001408473.1:c.784+1731del intron variant NM_001408474.1:c.586+1731del intron variant NM_001408475.1:c.583+1731del intron variant NM_001408476.1:c.586+1731del intron variant NM_001408478.1:c.577+1731del intron variant NM_001408479.1:c.577+1731del intron variant NM_001408480.1:c.577+1731del intron variant NM_001408481.1:c.577+1731del intron variant NM_001408482.1:c.577+1731del intron variant NM_001408483.1:c.577+1731del intron variant NM_001408484.1:c.577+1731del intron variant NM_001408485.1:c.577+1731del intron variant NM_001408489.1:c.577+1731del intron variant NM_001408490.1:c.574+1731del intron variant NM_001408491.1:c.574+1731del intron variant NM_001408492.1:c.577+1731del intron variant NM_001408493.1:c.574+1731del intron variant NM_001408494.1:c.548-1981del intron variant NM_001408495.1:c.545-1981del intron variant NM_001408496.1:c.523+1731del intron variant NM_001408497.1:c.523+1731del intron variant NM_001408498.1:c.523+1731del intron variant NM_001408499.1:c.523+1731del intron variant NM_001408500.1:c.523+1731del intron variant NM_001408501.1:c.523+1731del intron variant NM_001408502.1:c.454+1731del intron variant NM_001408503.1:c.520+1731del intron variant NM_001408504.1:c.520+1731del intron variant NM_001408505.1:c.520+1731del intron variant NM_001408506.1:c.461-1981del intron variant NM_001408507.1:c.461-1981del intron variant NM_001408508.1:c.451+1731del intron variant NM_001408509.1:c.451+1731del intron variant NM_001408510.1:c.406+1731del intron variant NM_001408511.1:c.404-1981del intron variant NM_001408512.1:c.283+1731del intron variant NM_001408513.1:c.577+1731del intron variant NM_001408514.1:c.577+1731del intron variant NM_007297.4:c.2377del NP_009228.2:p.Ser793fs frameshift NM_007298.4:c.787+1731del intron variant NM_007299.4:c.787+1731del intron variant NM_007300.4:c.2518del NP_009231.2:p.Ser840fs frameshift NR_027676.1:n.2654delA NC_000017.11:g.43093013del NC_000017.10:g.41245030del NG_005905.2:g.124971del LRG_292:g.124971del LRG_292t1:c.2518del LRG_292p1:p.Ser840Valfs - Protein change
- S793fs, S840fs, S544fs, S672fs, S752fs, S770fs, S814fs, S773fs, S792fs, S798fs, S813fs, S712fs, S713fs, S729fs, S751fs, S772fs, S799fs, S837fs, S839fs, S728fs, S769fs
- Other names
-
2637delA
- Canonical SPDI
- NC_000017.11:43093012:T:
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13471 | 15364 | |
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 (1) |
no assertion criteria provided
|
Jan 31, 2014 | RCV000496896.9 | |
| Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257345.13 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Oct 18, 2016)
C
Contributing to aggregate classification
|
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: SCV000323470.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 02, 2015)
N
Not contributing to aggregate classification
|
criteria provided, single submitter
Method: clinical testing
|
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: SCV000325382.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Jan 31, 2014)
N
Not contributing to aggregate classification
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587228.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
|
Comment:
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs397508975 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Apr 28, 2025
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.