Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4250del (p.Val1417fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4250del (p.Val1417fs)
Variation ID: 142996 Accession: VCV000142996.14
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082511 (GRCh38) [ NCBI UCSC ] 17: 41234528 (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 Mar 24, 2015 Feb 14, 2024 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4250del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1417fs frameshift NM_001407571.1:c.4037delT NP_001394500.1:p.Val1346Glyfs frameshift NM_001407581.1:c.4250delT NP_001394510.1:p.Val1417Glyfs frameshift NM_001407582.1:c.4250delT NP_001394511.1:p.Val1417Glyfs frameshift NM_001407583.1:c.4250delT NP_001394512.1:p.Val1417Glyfs frameshift NM_001407585.1:c.4250delT NP_001394514.1:p.Val1417Glyfs frameshift NM_001407587.1:c.4247delT NP_001394516.1:p.Val1416Glyfs frameshift NM_001407590.1:c.4247delT NP_001394519.1:p.Val1416Glyfs frameshift NM_001407591.1:c.4247delT NP_001394520.1:p.Val1416Glyfs frameshift NM_001407593.1:c.4250delT NP_001394522.1:p.Val1417Glyfs frameshift NM_001407594.1:c.4250delT NP_001394523.1:p.Val1417Glyfs frameshift NM_001407596.1:c.4250delT NP_001394525.1:p.Val1417Glyfs frameshift NM_001407597.1:c.4250delT NP_001394526.1:p.Val1417Glyfs frameshift NM_001407598.1:c.4250delT NP_001394527.1:p.Val1417Glyfs frameshift NM_001407602.1:c.4250delT NP_001394531.1:p.Val1417Glyfs frameshift NM_001407603.1:c.4250delT NP_001394532.1:p.Val1417Glyfs frameshift NM_001407605.1:c.4250delT NP_001394534.1:p.Val1417Glyfs frameshift NM_001407610.1:c.4247delT NP_001394539.1:p.Val1416Glyfs frameshift NM_001407611.1:c.4247delT NP_001394540.1:p.Val1416Glyfs frameshift NM_001407612.1:c.4247delT NP_001394541.1:p.Val1416Glyfs frameshift NM_001407613.1:c.4247delT NP_001394542.1:p.Val1416Glyfs frameshift NM_001407614.1:c.4247delT NP_001394543.1:p.Val1416Glyfs frameshift NM_001407615.1:c.4247delT NP_001394544.1:p.Val1416Glyfs frameshift NM_001407616.1:c.4250delT NP_001394545.1:p.Val1417Glyfs frameshift NM_001407617.1:c.4250delT NP_001394546.1:p.Val1417Glyfs frameshift NM_001407618.1:c.4250delT NP_001394547.1:p.Val1417Glyfs frameshift NM_001407619.1:c.4250delT NP_001394548.1:p.Val1417Glyfs frameshift NM_001407620.1:c.4250delT NP_001394549.1:p.Val1417Glyfs frameshift NM_001407621.1:c.4250delT NP_001394550.1:p.Val1417Glyfs frameshift NM_001407622.1:c.4250delT NP_001394551.1:p.Val1417Glyfs frameshift NM_001407623.1:c.4250delT NP_001394552.1:p.Val1417Glyfs frameshift NM_001407624.1:c.4247delT NP_001394553.1:p.Val1416Glyfs frameshift NM_001407625.1:c.4247delT NP_001394554.1:p.Val1416Glyfs frameshift NM_001407626.1:c.4247delT NP_001394555.1:p.Val1416Glyfs frameshift NM_001407627.1:c.4244delT NP_001394556.1:p.Val1415Glyfs frameshift NM_001407628.1:c.4244delT NP_001394557.1:p.Val1415Glyfs frameshift NM_001407629.1:c.4244delT NP_001394558.1:p.Val1415Glyfs frameshift NM_001407630.1:c.4244delT NP_001394559.1:p.Val1415Glyfs frameshift NM_001407631.1:c.4244delT NP_001394560.1:p.Val1415Glyfs frameshift NM_001407632.1:c.4244delT NP_001394561.1:p.Val1415Glyfs frameshift NM_001407633.1:c.4247delT NP_001394562.1:p.Val1416Glyfs frameshift NM_001407634.1:c.4247delT NP_001394563.1:p.Val1416Glyfs frameshift NM_001407635.1:c.4247delT NP_001394564.1:p.Val1416Glyfs frameshift NM_001407636.1:c.4247delT NP_001394565.1:p.Val1416Glyfs frameshift NM_001407637.1:c.4247delT NP_001394566.1:p.Val1416Glyfs frameshift NM_001407638.1:c.4247delT NP_001394567.1:p.Val1416Glyfs frameshift NM_001407639.1:c.4247delT NP_001394568.1:p.Val1416Glyfs frameshift NM_001407640.1:c.4247delT NP_001394569.1:p.Val1416Glyfs frameshift NM_001407641.1:c.4247delT NP_001394570.1:p.Val1416Glyfs frameshift NM_001407642.1:c.4247delT NP_001394571.1:p.Val1416Glyfs frameshift NM_001407644.1:c.4244delT NP_001394573.1:p.Val1415Glyfs frameshift NM_001407645.1:c.4244delT NP_001394574.1:p.Val1415Glyfs frameshift NM_001407646.1:c.4238delT NP_001394575.1:p.Val1413Glyfs frameshift NM_001407647.1:c.4238delT NP_001394576.1:p.Val1413Glyfs frameshift NM_001407648.1:c.4127delT NP_001394577.1:p.Val1376Glyfs frameshift NM_001407649.1:c.4124delT NP_001394578.1:p.Val1375Glyfs frameshift NM_001407652.1:c.4250delT NP_001394581.1:p.Val1417Glyfs frameshift NM_001407653.1:c.4172delT NP_001394582.1:p.Val1391Glyfs frameshift NM_001407654.1:c.4172delT NP_001394583.1:p.Val1391Glyfs frameshift NM_001407655.1:c.4172delT NP_001394584.1:p.Val1391Glyfs frameshift NM_001407656.1:c.4169delT NP_001394585.1:p.Val1390Glyfs frameshift NM_001407657.1:c.4172delT NP_001394586.1:p.Val1391Glyfs frameshift NM_001407658.1:c.4172delT NP_001394587.1:p.Val1391Glyfs frameshift NM_001407659.1:c.4166delT NP_001394588.1:p.Val1389Glyfs frameshift NM_001407660.1:c.4166delT NP_001394589.1:p.Val1389Glyfs frameshift NM_001407661.1:c.4169delT NP_001394590.1:p.Val1390Glyfs frameshift NM_001407662.1:c.4169delT NP_001394591.1:p.Val1390Glyfs frameshift NM_001407663.1:c.4169delT NP_001394592.1:p.Val1390Glyfs frameshift NM_001407664.1:c.4127delT NP_001394593.1:p.Val1376Glyfs frameshift NM_001407665.1:c.4127delT NP_001394594.1:p.Val1376Glyfs frameshift NM_001407666.1:c.4127delT NP_001394595.1:p.Val1376Glyfs frameshift NM_001407667.1:c.4127delT NP_001394596.1:p.Val1376Glyfs frameshift NM_001407668.1:c.4127delT NP_001394597.1:p.Val1376Glyfs frameshift NM_001407669.1:c.4127delT NP_001394598.1:p.Val1376Glyfs frameshift NM_001407670.1:c.4124delT NP_001394599.1:p.Val1375Glyfs frameshift NM_001407671.1:c.4124delT NP_001394600.1:p.Val1375Glyfs frameshift NM_001407672.1:c.4124delT NP_001394601.1:p.Val1375Glyfs frameshift NM_001407673.1:c.4124delT NP_001394602.1:p.Val1375Glyfs frameshift NM_001407674.1:c.4124delT NP_001394603.1:p.Val1375Glyfs frameshift NM_001407675.1:c.4124delT NP_001394604.1:p.Val1375Glyfs frameshift NM_001407676.1:c.4124delT NP_001394605.1:p.Val1375Glyfs frameshift NM_001407677.1:c.4127delT NP_001394606.1:p.Val1376Glyfs frameshift NM_001407678.1:c.4127delT NP_001394607.1:p.Val1376Glyfs frameshift NM_001407679.1:c.4127delT NP_001394608.1:p.Val1376Glyfs frameshift NM_001407680.1:c.4127delT NP_001394609.1:p.Val1376Glyfs frameshift NM_001407681.1:c.4124delT NP_001394610.1:p.Val1375Glyfs frameshift NM_001407682.1:c.4124delT NP_001394611.1:p.Val1375Glyfs frameshift NM_001407683.1:c.4124delT NP_001394612.1:p.Val1375Glyfs frameshift NM_001407684.1:c.4250delT NP_001394613.1:p.Val1417Glyfs frameshift NM_001407685.1:c.4121delT NP_001394614.1:p.Val1374Glyfs frameshift NM_001407686.1:c.4121delT NP_001394615.1:p.Val1374Glyfs frameshift NM_001407687.1:c.4121delT NP_001394616.1:p.Val1374Glyfs frameshift NM_001407688.1:c.4124delT NP_001394617.1:p.Val1375Glyfs frameshift NM_001407689.1:c.4124delT NP_001394618.1:p.Val1375Glyfs frameshift NM_001407690.1:c.4121delT NP_001394619.1:p.Val1374Glyfs frameshift NM_001407691.1:c.4121delT NP_001394620.1:p.Val1374Glyfs frameshift NM_001407692.1:c.4109delT NP_001394621.1:p.Val1370Glyfs frameshift NM_001407694.1:c.4109delT NP_001394623.1:p.Val1370Glyfs frameshift NM_001407695.1:c.4109delT NP_001394624.1:p.Val1370Glyfs frameshift NM_001407696.1:c.4109delT NP_001394625.1:p.Val1370Glyfs frameshift NM_001407697.1:c.4109delT NP_001394626.1:p.Val1370Glyfs frameshift NM_001407698.1:c.4109delT NP_001394627.1:p.Val1370Glyfs frameshift NM_001407724.1:c.4109delT NP_001394653.1:p.Val1370Glyfs frameshift NM_001407725.1:c.4109delT NP_001394654.1:p.Val1370Glyfs frameshift NM_001407726.1:c.4109delT NP_001394655.1:p.Val1370Glyfs frameshift NM_001407727.1:c.4109delT NP_001394656.1:p.Val1370Glyfs frameshift NM_001407728.1:c.4109delT NP_001394657.1:p.Val1370Glyfs frameshift NM_001407729.1:c.4109delT NP_001394658.1:p.Val1370Glyfs frameshift NM_001407730.1:c.4109delT NP_001394659.1:p.Val1370Glyfs frameshift NM_001407731.1:c.4109delT NP_001394660.1:p.Val1370Glyfs frameshift NM_001407732.1:c.4109delT NP_001394661.1:p.Val1370Glyfs frameshift NM_001407733.1:c.4109delT NP_001394662.1:p.Val1370Glyfs frameshift NM_001407734.1:c.4109delT NP_001394663.1:p.Val1370Glyfs frameshift NM_001407735.1:c.4109delT NP_001394664.1:p.Val1370Glyfs frameshift NM_001407736.1:c.4109delT NP_001394665.1:p.Val1370Glyfs frameshift NM_001407737.1:c.4109delT NP_001394666.1:p.Val1370Glyfs frameshift NM_001407738.1:c.4109delT NP_001394667.1:p.Val1370Glyfs frameshift NM_001407739.1:c.4109delT NP_001394668.1:p.Val1370Glyfs frameshift NM_001407740.1:c.4106delT NP_001394669.1:p.Val1369Glyfs frameshift NM_001407741.1:c.4106delT NP_001394670.1:p.Val1369Glyfs frameshift NM_001407742.1:c.4106delT NP_001394671.1:p.Val1369Glyfs frameshift NM_001407743.1:c.4106delT NP_001394672.1:p.Val1369Glyfs frameshift NM_001407744.1:c.4106delT NP_001394673.1:p.Val1369Glyfs frameshift NM_001407745.1:c.4106delT NP_001394674.1:p.Val1369Glyfs frameshift NM_001407746.1:c.4106delT NP_001394675.1:p.Val1369Glyfs frameshift NM_001407747.1:c.4106delT NP_001394676.1:p.Val1369Glyfs frameshift NM_001407748.1:c.4106delT NP_001394677.1:p.Val1369Glyfs frameshift NM_001407749.1:c.4106delT NP_001394678.1:p.Val1369Glyfs frameshift NM_001407750.1:c.4106delT NP_001394679.1:p.Val1369Glyfs frameshift NM_001407751.1:c.4106delT NP_001394680.1:p.Val1369Glyfs frameshift NM_001407752.1:c.4106delT NP_001394681.1:p.Val1369Glyfs frameshift NM_001407838.1:c.4106delT NP_001394767.1:p.Val1369Glyfs frameshift NM_001407839.1:c.4106delT NP_001394768.1:p.Val1369Glyfs frameshift NM_001407841.1:c.4106delT NP_001394770.1:p.Val1369Glyfs frameshift NM_001407842.1:c.4106delT NP_001394771.1:p.Val1369Glyfs frameshift NM_001407843.1:c.4106delT NP_001394772.1:p.Val1369Glyfs frameshift NM_001407844.1:c.4106delT NP_001394773.1:p.Val1369Glyfs frameshift NM_001407845.1:c.4106delT NP_001394774.1:p.Val1369Glyfs frameshift NM_001407846.1:c.4106delT NP_001394775.1:p.Val1369Glyfs frameshift NM_001407847.1:c.4103delT NP_001394776.1:p.Val1368Glyfs frameshift NM_001407848.1:c.4103delT NP_001394777.1:p.Val1368Glyfs frameshift NM_001407849.1:c.4103delT NP_001394778.1:p.Val1368Glyfs frameshift NM_001407850.1:c.4106delT NP_001394779.1:p.Val1369Glyfs frameshift NM_001407851.1:c.4106delT NP_001394780.1:p.Val1369Glyfs frameshift NM_001407852.1:c.4106delT NP_001394781.1:p.Val1369Glyfs frameshift NM_001407853.1:c.4037delT NP_001394782.1:p.Val1346Glyfs frameshift NM_001407854.1:c.4250delT NP_001394783.1:p.Val1417Glyfs frameshift NM_001407858.1:c.4250delT NP_001394787.1:p.Val1417Glyfs frameshift NM_001407859.1:c.4250delT NP_001394788.1:p.Val1417Glyfs frameshift NM_001407860.1:c.4247delT NP_001394789.1:p.Val1416Glyfs frameshift NM_001407861.1:c.4247delT NP_001394790.1:p.Val1416Glyfs frameshift NM_001407862.1:c.4049delT NP_001394791.1:p.Val1350Glyfs frameshift NM_001407863.1:c.4127delT NP_001394792.1:p.Val1376Glyfs frameshift NM_001407874.1:c.4046delT NP_001394803.1:p.Val1349Glyfs frameshift NM_001407875.1:c.4046delT NP_001394804.1:p.Val1349Glyfs frameshift NM_001407879.1:c.4040delT NP_001394808.1:p.Val1347Glyfs frameshift NM_001407881.1:c.4040delT NP_001394810.1:p.Val1347Glyfs frameshift NM_001407882.1:c.4040delT NP_001394811.1:p.Val1347Glyfs frameshift NM_001407884.1:c.4040delT NP_001394813.1:p.Val1347Glyfs frameshift NM_001407885.1:c.4040delT NP_001394814.1:p.Val1347Glyfs frameshift NM_001407886.1:c.4040delT NP_001394815.1:p.Val1347Glyfs frameshift NM_001407887.1:c.4040delT NP_001394816.1:p.Val1347Glyfs frameshift NM_001407889.1:c.4040delT NP_001394818.1:p.Val1347Glyfs frameshift NM_001407894.1:c.4037delT NP_001394823.1:p.Val1346Glyfs frameshift NM_001407895.1:c.4037delT NP_001394824.1:p.Val1346Glyfs frameshift NM_001407896.1:c.4037delT NP_001394825.1:p.Val1346Glyfs frameshift NM_001407897.1:c.4037delT NP_001394826.1:p.Val1346Glyfs frameshift NM_001407898.1:c.4037delT NP_001394827.1:p.Val1346Glyfs frameshift NM_001407899.1:c.4037delT NP_001394828.1:p.Val1346Glyfs frameshift NM_001407900.1:c.4040delT NP_001394829.1:p.Val1347Glyfs frameshift NM_001407902.1:c.4040delT NP_001394831.1:p.Val1347Glyfs frameshift NM_001407904.1:c.4040delT NP_001394833.1:p.Val1347Glyfs frameshift NM_001407906.1:c.4040delT NP_001394835.1:p.Val1347Glyfs frameshift NM_001407907.1:c.4037delT NP_001394836.1:p.Val1346Glyfs frameshift NM_001407908.1:c.4037delT NP_001394837.1:p.Val1346Glyfs frameshift NM_001407909.1:c.4037delT NP_001394838.1:p.Val1346Glyfs frameshift NM_001407910.1:c.4037delT NP_001394839.1:p.Val1346Glyfs frameshift NM_001407915.1:c.4034delT NP_001394844.1:p.Val1345Glyfs frameshift NM_001407916.1:c.4037delT NP_001394845.1:p.Val1346Glyfs frameshift NM_001407917.1:c.4037delT NP_001394846.1:p.Val1346Glyfs frameshift NM_001407918.1:c.4037delT NP_001394847.1:p.Val1346Glyfs frameshift NM_001407919.1:c.4127delT NP_001394848.1:p.Val1376Glyfs frameshift NM_001407920.1:c.3986delT NP_001394849.1:p.Val1329Glyfs frameshift NM_001407921.1:c.3986delT NP_001394850.1:p.Val1329Glyfs frameshift NM_001407922.1:c.3986delT NP_001394851.1:p.Val1329Glyfs frameshift NM_001407923.1:c.3986delT NP_001394852.1:p.Val1329Glyfs frameshift NM_001407924.1:c.3986delT NP_001394853.1:p.Val1329Glyfs frameshift NM_001407925.1:c.3986delT NP_001394854.1:p.Val1329Glyfs frameshift NM_001407926.1:c.3986delT NP_001394855.1:p.Val1329Glyfs frameshift NM_001407927.1:c.3986delT NP_001394856.1:p.Val1329Glyfs frameshift NM_001407928.1:c.3986delT NP_001394857.1:p.Val1329Glyfs frameshift NM_001407929.1:c.3986delT NP_001394858.1:p.Val1329Glyfs frameshift NM_001407930.1:c.3983delT NP_001394859.1:p.Val1328Glyfs frameshift NM_001407931.1:c.3983delT NP_001394860.1:p.Val1328Glyfs frameshift NM_001407932.1:c.3983delT NP_001394861.1:p.Val1328Glyfs frameshift NM_001407933.1:c.3983delT NP_001394862.1:p.Val1328Glyfs frameshift NM_001407934.1:c.3980delT NP_001394863.1:p.Val1327Glyfs frameshift NM_001407935.1:c.3983delT NP_001394864.1:p.Val1328Glyfs frameshift NM_001407936.1:c.3983delT NP_001394865.1:p.Val1328Glyfs frameshift NM_001407937.1:c.4127delT NP_001394866.1:p.Val1376Glyfs frameshift NM_001407938.1:c.4127delT NP_001394867.1:p.Val1376Glyfs frameshift NM_001407939.1:c.4127delT NP_001394868.1:p.Val1376Glyfs frameshift NM_001407940.1:c.4124delT NP_001394869.1:p.Val1375Glyfs frameshift NM_001407941.1:c.4124delT NP_001394870.1:p.Val1375Glyfs frameshift NM_001407942.1:c.4109delT NP_001394871.1:p.Val1370Glyfs frameshift NM_001407943.1:c.4106delT NP_001394872.1:p.Val1369Glyfs frameshift NM_001407944.1:c.4109delT NP_001394873.1:p.Val1370Glyfs frameshift NM_001407945.1:c.4109delT NP_001394874.1:p.Val1370Glyfs frameshift NM_001407946.1:c.3917delT NP_001394875.1:p.Val1306Glyfs frameshift NM_001407947.1:c.3917delT NP_001394876.1:p.Val1306Glyfs frameshift NM_001407948.1:c.3917delT NP_001394877.1:p.Val1306Glyfs frameshift NM_001407949.1:c.3917delT NP_001394878.1:p.Val1306Glyfs frameshift NM_001407950.1:c.3917delT NP_001394879.1:p.Val1306Glyfs frameshift NM_001407951.1:c.3917delT NP_001394880.1:p.Val1306Glyfs frameshift NM_001407952.1:c.3914delT NP_001394881.1:p.Val1305Glyfs frameshift NM_001407953.1:c.3914delT NP_001394882.1:p.Val1305Glyfs frameshift NM_001407954.1:c.3914delT NP_001394883.1:p.Val1305Glyfs frameshift NM_001407955.1:c.3914delT NP_001394884.1:p.Val1305Glyfs frameshift NM_001407956.1:c.3911delT NP_001394885.1:p.Val1304Glyfs frameshift NM_001407957.1:c.3914delT NP_001394886.1:p.Val1305Glyfs frameshift NM_001407958.1:c.3914delT NP_001394887.1:p.Val1305Glyfs frameshift NM_001407959.1:c.3869delT NP_001394888.1:p.Val1290Glyfs frameshift NM_001407960.1:c.3869delT NP_001394889.1:p.Val1290Glyfs frameshift NM_001407962.1:c.3866delT NP_001394891.1:p.Val1289Glyfs frameshift NM_001407963.1:c.3866delT NP_001394892.1:p.Val1289Glyfs frameshift NM_001407964.1:c.4106delT NP_001394893.1:p.Val1369Glyfs frameshift NM_001407965.1:c.3743delT NP_001394894.1:p.Val1248Glyfs frameshift NM_001407966.1:c.3362delT NP_001394895.1:p.Val1121Glyfs frameshift NM_001407967.1:c.3362delT NP_001394896.1:p.Val1121Glyfs frameshift NM_001407968.1:c.1646delT NP_001394897.1:p.Val549Glyfs frameshift NM_001407969.1:c.1643delT NP_001394898.1:p.Val548Glyfs frameshift NM_001407970.1:c.941delT NP_001394899.1:p.Val314Glyfs frameshift NM_001407971.1:c.941delT NP_001394900.1:p.Val314Glyfs frameshift NM_001407972.1:c.938delT NP_001394901.1:p.Val313Glyfs frameshift NM_001407973.1:c.941delT NP_001394902.1:p.Val314Glyfs frameshift NM_001407974.1:c.941delT NP_001394903.1:p.Val314Glyfs frameshift NM_001407975.1:c.941delT NP_001394904.1:p.Val314Glyfs frameshift NM_001407976.1:c.941delT NP_001394905.1:p.Val314Glyfs frameshift NM_001407977.1:c.941delT NP_001394906.1:p.Val314Glyfs frameshift NM_001407978.1:c.941delT NP_001394907.1:p.Val314Glyfs frameshift NM_001407979.1:c.938delT NP_001394908.1:p.Val313Glyfs frameshift NM_001407980.1:c.938delT NP_001394909.1:p.Val313Glyfs frameshift NM_001407981.1:c.938delT NP_001394910.1:p.Val313Glyfs frameshift NM_001407982.1:c.938delT NP_001394911.1:p.Val313Glyfs frameshift NM_001407983.1:c.938delT NP_001394912.1:p.Val313Glyfs frameshift NM_001407984.1:c.938delT NP_001394913.1:p.Val313Glyfs frameshift NM_001407985.1:c.938delT NP_001394914.1:p.Val313Glyfs frameshift NM_001407986.1:c.938delT NP_001394915.1:p.Val313Glyfs frameshift NM_001407990.1:c.938delT NP_001394919.1:p.Val313Glyfs frameshift NM_001407991.1:c.938delT NP_001394920.1:p.Val313Glyfs frameshift NM_001407992.1:c.938delT NP_001394921.1:p.Val313Glyfs frameshift NM_001407993.1:c.941delT NP_001394922.1:p.Val314Glyfs frameshift NM_001408392.1:c.938delT NP_001395321.1:p.Val313Glyfs frameshift NM_001408396.1:c.938delT NP_001395325.1:p.Val313Glyfs frameshift NM_001408397.1:c.938delT NP_001395326.1:p.Val313Glyfs frameshift NM_001408398.1:c.938delT NP_001395327.1:p.Val313Glyfs frameshift NM_001408399.1:c.938delT NP_001395328.1:p.Val313Glyfs frameshift NM_001408400.1:c.935delT NP_001395329.1:p.Val312Glyfs frameshift NM_001408401.1:c.935delT NP_001395330.1:p.Val312Glyfs frameshift NM_001408402.1:c.935delT NP_001395331.1:p.Val312Glyfs frameshift NM_001408403.1:c.938delT NP_001395332.1:p.Val313Glyfs frameshift NM_001408404.1:c.938delT NP_001395333.1:p.Val313Glyfs frameshift NM_001408406.1:c.932delT NP_001395335.1:p.Val311Glyfs frameshift NM_001408407.1:c.935delT NP_001395336.1:p.Val312Glyfs frameshift NM_001408408.1:c.932delT NP_001395337.1:p.Val311Glyfs frameshift NM_001408409.1:c.863delT NP_001395338.1:p.Val288Glyfs frameshift NM_001408410.1:c.800delT NP_001395339.1:p.Val267Glyfs frameshift NM_001408411.1:c.863delT NP_001395340.1:p.Val288Glyfs frameshift NM_001408412.1:c.863delT NP_001395341.1:p.Val288Glyfs frameshift NM_001408413.1:c.860delT NP_001395342.1:p.Val287Glyfs frameshift NM_001408414.1:c.863delT NP_001395343.1:p.Val288Glyfs frameshift NM_001408415.1:c.863delT NP_001395344.1:p.Val288Glyfs frameshift NM_001408416.1:c.860delT NP_001395345.1:p.Val287Glyfs frameshift NM_001408418.1:c.824delT NP_001395347.1:p.Val275Glyfs frameshift NM_001408419.1:c.824delT NP_001395348.1:p.Val275Glyfs frameshift NM_001408420.1:c.824delT NP_001395349.1:p.Val275Glyfs frameshift NM_001408421.1:c.821delT NP_001395350.1:p.Val274Glyfs frameshift NM_001408422.1:c.824delT NP_001395351.1:p.Val275Glyfs frameshift NM_001408423.1:c.824delT NP_001395352.1:p.Val275Glyfs frameshift NM_001408424.1:c.821delT NP_001395353.1:p.Val274Glyfs frameshift NM_001408425.1:c.818delT NP_001395354.1:p.Val273Glyfs frameshift NM_001408426.1:c.818delT NP_001395355.1:p.Val273Glyfs frameshift NM_001408427.1:c.818delT NP_001395356.1:p.Val273Glyfs frameshift NM_001408428.1:c.818delT NP_001395357.1:p.Val273Glyfs frameshift NM_001408429.1:c.818delT NP_001395358.1:p.Val273Glyfs frameshift NM_001408430.1:c.818delT NP_001395359.1:p.Val273Glyfs frameshift NM_001408431.1:c.821delT NP_001395360.1:p.Val274Glyfs frameshift NM_001408432.1:c.815delT NP_001395361.1:p.Val272Glyfs frameshift NM_001408433.1:c.815delT NP_001395362.1:p.Val272Glyfs frameshift NM_001408434.1:c.815delT NP_001395363.1:p.Val272Glyfs frameshift NM_001408435.1:c.815delT NP_001395364.1:p.Val272Glyfs frameshift NM_001408436.1:c.818delT NP_001395365.1:p.Val273Glyfs frameshift NM_001408437.1:c.818delT NP_001395366.1:p.Val273Glyfs frameshift NM_001408438.1:c.818delT NP_001395367.1:p.Val273Glyfs frameshift NM_001408439.1:c.818delT NP_001395368.1:p.Val273Glyfs frameshift NM_001408440.1:c.818delT NP_001395369.1:p.Val273Glyfs frameshift NM_001408441.1:c.815delT NP_001395370.1:p.Val272Glyfs frameshift NM_001408442.1:c.815delT NP_001395371.1:p.Val272Glyfs frameshift NM_001408443.1:c.815delT NP_001395372.1:p.Val272Glyfs frameshift NM_001408444.1:c.815delT NP_001395373.1:p.Val272Glyfs frameshift NM_001408445.1:c.815delT NP_001395374.1:p.Val272Glyfs frameshift NM_001408446.1:c.815delT NP_001395375.1:p.Val272Glyfs frameshift NM_001408447.1:c.815delT NP_001395376.1:p.Val272Glyfs frameshift NM_001408448.1:c.815delT NP_001395377.1:p.Val272Glyfs frameshift NM_001408450.1:c.815delT NP_001395379.1:p.Val272Glyfs frameshift NM_001408451.1:c.806delT NP_001395380.1:p.Val269Glyfs frameshift NM_001408452.1:c.800delT NP_001395381.1:p.Val267Glyfs frameshift NM_001408453.1:c.800delT NP_001395382.1:p.Val267Glyfs frameshift NM_001408454.1:c.800delT NP_001395383.1:p.Val267Glyfs frameshift NM_001408455.1:c.800delT NP_001395384.1:p.Val267Glyfs frameshift NM_001408456.1:c.800delT NP_001395385.1:p.Val267Glyfs frameshift NM_001408457.1:c.800delT NP_001395386.1:p.Val267Glyfs frameshift NM_001408458.1:c.800delT NP_001395387.1:p.Val267Glyfs frameshift NM_001408459.1:c.800delT NP_001395388.1:p.Val267Glyfs frameshift NM_001408460.1:c.800delT NP_001395389.1:p.Val267Glyfs frameshift NM_001408461.1:c.800delT NP_001395390.1:p.Val267Glyfs frameshift NM_001408462.1:c.797delT NP_001395391.1:p.Val266Glyfs frameshift NM_001408463.1:c.797delT NP_001395392.1:p.Val266Glyfs frameshift NM_001408464.1:c.797delT NP_001395393.1:p.Val266Glyfs frameshift NM_001408465.1:c.797delT NP_001395394.1:p.Val266Glyfs frameshift NM_001408466.1:c.797delT NP_001395395.1:p.Val266Glyfs frameshift NM_001408467.1:c.797delT NP_001395396.1:p.Val266Glyfs frameshift NM_001408468.1:c.797delT NP_001395397.1:p.Val266Glyfs frameshift NM_001408469.1:c.797delT NP_001395398.1:p.Val266Glyfs frameshift NM_001408470.1:c.794delT NP_001395399.1:p.Val265Glyfs frameshift NM_001408472.1:c.938delT NP_001395401.1:p.Val313Glyfs frameshift NM_001408473.1:c.938delT NP_001395402.1:p.Val313Glyfs frameshift NM_001408474.1:c.740delT NP_001395403.1:p.Val247Glyfs frameshift NM_001408475.1:c.737delT NP_001395404.1:p.Val246Glyfs frameshift NM_001408476.1:c.740delT NP_001395405.1:p.Val247Glyfs frameshift NM_001408478.1:c.731delT NP_001395407.1:p.Val244Glyfs frameshift NM_001408479.1:c.731delT NP_001395408.1:p.Val244Glyfs frameshift NM_001408480.1:c.731delT NP_001395409.1:p.Val244Glyfs frameshift NM_001408481.1:c.731delT NP_001395410.1:p.Val244Glyfs frameshift NM_001408482.1:c.731delT NP_001395411.1:p.Val244Glyfs frameshift NM_001408483.1:c.731delT NP_001395412.1:p.Val244Glyfs frameshift NM_001408484.1:c.731delT NP_001395413.1:p.Val244Glyfs frameshift NM_001408485.1:c.731delT NP_001395414.1:p.Val244Glyfs frameshift NM_001408489.1:c.728delT NP_001395418.1:p.Val243Glyfs frameshift NM_001408490.1:c.728delT NP_001395419.1:p.Val243Glyfs frameshift NM_001408491.1:c.728delT NP_001395420.1:p.Val243Glyfs frameshift NM_001408492.1:c.728delT NP_001395421.1:p.Val243Glyfs frameshift NM_001408493.1:c.728delT NP_001395422.1:p.Val243Glyfs frameshift NM_001408494.1:c.701delT NP_001395423.1:p.Val234Glyfs frameshift NM_001408495.1:c.698delT NP_001395424.1:p.Val233Glyfs frameshift NM_001408496.1:c.677delT NP_001395425.1:p.Val226Glyfs frameshift NM_001408497.1:c.677delT NP_001395426.1:p.Val226Glyfs frameshift NM_001408498.1:c.677delT NP_001395427.1:p.Val226Glyfs frameshift NM_001408499.1:c.677delT NP_001395428.1:p.Val226Glyfs frameshift NM_001408500.1:c.677delT NP_001395429.1:p.Val226Glyfs frameshift NM_001408501.1:c.677delT NP_001395430.1:p.Val226Glyfs frameshift NM_001408502.1:c.608delT NP_001395431.1:p.Val203Glyfs frameshift NM_001408503.1:c.674delT NP_001395432.1:p.Val225Glyfs frameshift NM_001408504.1:c.674delT NP_001395433.1:p.Val225Glyfs frameshift NM_001408505.1:c.674delT NP_001395434.1:p.Val225Glyfs frameshift NM_001408506.1:c.614delT NP_001395435.1:p.Val205Glyfs frameshift NM_001408507.1:c.611delT NP_001395436.1:p.Val204Glyfs frameshift NM_001408508.1:c.602delT NP_001395437.1:p.Val201Glyfs frameshift NM_001408509.1:c.602delT NP_001395438.1:p.Val201Glyfs frameshift NM_001408510.1:c.560delT NP_001395439.1:p.Val187Glyfs frameshift NM_001408511.1:c.557delT NP_001395440.1:p.Val186Glyfs frameshift NM_001408512.1:c.437delT NP_001395441.1:p.Val146Glyfs frameshift NM_001408513.1:c.728delT NP_001395442.1:p.Val243Glyfs frameshift NM_001408514.1:c.731delT NP_001395443.1:p.Val244Glyfs frameshift NM_007297.4:c.4109del NP_009228.2:p.Val1370fs frameshift NM_007298.4:c.941delT NP_009229.2:p.Val314Glyfs frameshift NM_007299.4:c.941del NP_009230.2:p.Val314fs frameshift NM_007300.4:c.4250del NP_009231.2:p.Val1417fs frameshift NM_007304.2:c.941delT NP_009235.2:p.Val314Glyfs frameshift NR_027676.2:n.4427del non-coding transcript variant NC_000017.11:g.43082511del NC_000017.10:g.41234528del NG_005905.2:g.135473del LRG_292:g.135473del LRG_292t1:c.4250del LRG_292p1:p.Val1417Glyfs - Protein change
- V314fs, V1417fs, V1370fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082510: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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Apr 3, 2014 | RCV000132513.11 | |
| Pathogenic (1) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000241140.10 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 5, 2021 | RCV001381003.16 |
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
(Sep 08, 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: SCV000300096.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Aug 19, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001579252.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Algorithms developed to predict … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast cancer (PMID: 26556299). ClinVar contains an entry for this variant (Variation ID: 142996). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1417Glyfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
|
|
|
Pathogenic
(Apr 03, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000187609.6
First in ClinVar: Aug 06, 2014 Last updated: Mar 24, 2015 |
Comment:
​The c.4250delT pathogenic mutation, located in coding exon 11 of the BRCA1 gene, results from a deletion of one nucleotide at position 4250, causing a … (more)
​The c.4250delT pathogenic mutation, located in coding exon 11 of the BRCA1 gene, results from a deletion of one nucleotide at position 4250, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). (less)
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Nov 05, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002041735.1
First in ClinVar: Dec 25, 2021 Last updated: Dec 25, 2021 |
Comment:
Variant summary: BRCA1 c.4250delT (p.Val1417GlyfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.4250delT (p.Val1417GlyfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251432 control chromosomes (gnomAD). c.4250delT has been reported in the literature in individual(s) affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Schrader_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters including an expert panel (ENIGMA) (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
Comment:
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast cancer (PMID: 26556299). ClinVar contains an entry for this variant (Variation ID: 142996). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1417Glyfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Comment:
​The c.4250delT pathogenic mutation, located in coding exon 11 of the BRCA1 gene, results from a deletion of one nucleotide at position 4250, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Comment:
Variant summary: BRCA1 c.4250delT (p.Val1417GlyfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251432 control chromosomes (gnomAD). c.4250delT has been reported in the literature in individual(s) affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Schrader_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters including an expert panel (ENIGMA) (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
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.
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with breast cancer (PMID: 26556299). ClinVar contains an entry for this variant (Variation ID: 142996). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val1417Glyfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Comment:
​The c.4250delT pathogenic mutation, located in coding exon 11 of the BRCA1 gene, results from a deletion of one nucleotide at position 4250, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Comment:
Variant summary: BRCA1 c.4250delT (p.Val1417GlyfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251432 control chromosomes (gnomAD). c.4250delT has been reported in the literature in individual(s) affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Schrader_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters including an expert panel (ENIGMA) (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. | LaDuca H | PloS one | 2017 | PMID: 28152038 |
| Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. | Schrader KA | JAMA oncology | 2016 | PMID: 26556299 |
| 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 rs587782879 ...
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Record last updated Nov 10, 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.