Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4681del (p.Thr1561fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Oct 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.4681del (p.Thr1561fs)
Variation ID: 55258 Accession: VCV000055258.7
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071233 (GRCh38) [ NCBI UCSC ] 17: 41223250 (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 7, 2023 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4681del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr1561fs frameshift NM_001407571.1:c.4467delA NP_001394500.1:p.Thr1490Profs frameshift NM_001407581.1:c.4746delA NP_001394510.1:p.Thr1583Profs frameshift NM_001407582.1:c.4746delA NP_001394511.1:p.Thr1583Profs frameshift NM_001407583.1:c.4743delA NP_001394512.1:p.Thr1582Profs frameshift NM_001407585.1:c.4743delA NP_001394514.1:p.Thr1582Profs frameshift NM_001407587.1:c.4743delA NP_001394516.1:p.Thr1582Profs frameshift NM_001407590.1:c.4740delA NP_001394519.1:p.Thr1581Profs frameshift NM_001407591.1:c.4740delA NP_001394520.1:p.Thr1581Profs frameshift NM_001407593.1:c.4680delA NP_001394522.1:p.Thr1561Profs frameshift NM_001407594.1:c.4680delA NP_001394523.1:p.Thr1561Profs frameshift NM_001407596.1:c.4680delA NP_001394525.1:p.Thr1561Profs frameshift NM_001407597.1:c.4680delA NP_001394526.1:p.Thr1561Profs frameshift NM_001407598.1:c.4680delA NP_001394527.1:p.Thr1561Profs frameshift NM_001407602.1:c.4680delA NP_001394531.1:p.Thr1561Profs frameshift NM_001407603.1:c.4680delA NP_001394532.1:p.Thr1561Profs frameshift NM_001407605.1:c.4680delA NP_001394534.1:p.Thr1561Profs frameshift NM_001407610.1:c.4677delA NP_001394539.1:p.Thr1560Profs frameshift NM_001407611.1:c.4677delA NP_001394540.1:p.Thr1560Profs frameshift NM_001407612.1:c.4677delA NP_001394541.1:p.Thr1560Profs frameshift NM_001407613.1:c.4677delA NP_001394542.1:p.Thr1560Profs frameshift NM_001407614.1:c.4677delA NP_001394543.1:p.Thr1560Profs frameshift NM_001407615.1:c.4677delA NP_001394544.1:p.Thr1560Profs frameshift NM_001407616.1:c.4677delA NP_001394545.1:p.Thr1560Profs frameshift NM_001407617.1:c.4677delA NP_001394546.1:p.Thr1560Profs frameshift NM_001407618.1:c.4677delA NP_001394547.1:p.Thr1560Profs frameshift NM_001407619.1:c.4677delA NP_001394548.1:p.Thr1560Profs frameshift NM_001407620.1:c.4677delA NP_001394549.1:p.Thr1560Profs frameshift NM_001407621.1:c.4677delA NP_001394550.1:p.Thr1560Profs frameshift NM_001407622.1:c.4677delA NP_001394551.1:p.Thr1560Profs frameshift NM_001407623.1:c.4677delA NP_001394552.1:p.Thr1560Profs frameshift NM_001407624.1:c.4677delA NP_001394553.1:p.Thr1560Profs frameshift NM_001407625.1:c.4677delA NP_001394554.1:p.Thr1560Profs frameshift NM_001407626.1:c.4677delA NP_001394555.1:p.Thr1560Profs frameshift NM_001407627.1:c.4674delA NP_001394556.1:p.Thr1559Profs frameshift NM_001407628.1:c.4674delA NP_001394557.1:p.Thr1559Profs frameshift NM_001407629.1:c.4674delA NP_001394558.1:p.Thr1559Profs frameshift NM_001407630.1:c.4674delA NP_001394559.1:p.Thr1559Profs frameshift NM_001407631.1:c.4674delA NP_001394560.1:p.Thr1559Profs frameshift NM_001407632.1:c.4674delA NP_001394561.1:p.Thr1559Profs frameshift NM_001407633.1:c.4674delA NP_001394562.1:p.Thr1559Profs frameshift NM_001407634.1:c.4674delA NP_001394563.1:p.Thr1559Profs frameshift NM_001407635.1:c.4674delA NP_001394564.1:p.Thr1559Profs frameshift NM_001407636.1:c.4674delA NP_001394565.1:p.Thr1559Profs frameshift NM_001407637.1:c.4674delA NP_001394566.1:p.Thr1559Profs frameshift NM_001407638.1:c.4674delA NP_001394567.1:p.Thr1559Profs frameshift NM_001407639.1:c.4674delA NP_001394568.1:p.Thr1559Profs frameshift NM_001407640.1:c.4674delA NP_001394569.1:p.Thr1559Profs frameshift NM_001407641.1:c.4674delA NP_001394570.1:p.Thr1559Profs frameshift NM_001407642.1:c.4674delA NP_001394571.1:p.Thr1559Profs frameshift NM_001407644.1:c.4671delA NP_001394573.1:p.Thr1558Profs frameshift NM_001407645.1:c.4671delA NP_001394574.1:p.Thr1558Profs frameshift NM_001407646.1:c.4668delA NP_001394575.1:p.Thr1557Profs frameshift NM_001407647.1:c.4665delA NP_001394576.1:p.Thr1556Profs frameshift NM_001407648.1:c.4623delA NP_001394577.1:p.Thr1542Profs frameshift NM_001407649.1:c.4620delA NP_001394578.1:p.Thr1541Profs frameshift NM_001407652.1:c.4680delA NP_001394581.1:p.Thr1561Profs frameshift NM_001407653.1:c.4602delA NP_001394582.1:p.Thr1535Profs frameshift NM_001407654.1:c.4602delA NP_001394583.1:p.Thr1535Profs frameshift NM_001407655.1:c.4602delA NP_001394584.1:p.Thr1535Profs frameshift NM_001407656.1:c.4599delA NP_001394585.1:p.Thr1534Profs frameshift NM_001407657.1:c.4599delA NP_001394586.1:p.Thr1534Profs frameshift NM_001407658.1:c.4599delA NP_001394587.1:p.Thr1534Profs frameshift NM_001407659.1:c.4596delA NP_001394588.1:p.Thr1533Profs frameshift NM_001407660.1:c.4596delA NP_001394589.1:p.Thr1533Profs frameshift NM_001407661.1:c.4596delA NP_001394590.1:p.Thr1533Profs frameshift NM_001407662.1:c.4596delA NP_001394591.1:p.Thr1533Profs frameshift NM_001407663.1:c.4596delA NP_001394592.1:p.Thr1533Profs frameshift NM_001407664.1:c.4557delA NP_001394593.1:p.Thr1520Profs frameshift NM_001407665.1:c.4557delA NP_001394594.1:p.Thr1520Profs frameshift NM_001407666.1:c.4557delA NP_001394595.1:p.Thr1520Profs frameshift NM_001407667.1:c.4557delA NP_001394596.1:p.Thr1520Profs frameshift NM_001407668.1:c.4557delA NP_001394597.1:p.Thr1520Profs frameshift NM_001407669.1:c.4557delA NP_001394598.1:p.Thr1520Profs frameshift NM_001407670.1:c.4554delA NP_001394599.1:p.Thr1519Profs frameshift NM_001407671.1:c.4554delA NP_001394600.1:p.Thr1519Profs frameshift NM_001407672.1:c.4554delA NP_001394601.1:p.Thr1519Profs frameshift NM_001407673.1:c.4554delA NP_001394602.1:p.Thr1519Profs frameshift NM_001407674.1:c.4554delA NP_001394603.1:p.Thr1519Profs frameshift NM_001407675.1:c.4554delA NP_001394604.1:p.Thr1519Profs frameshift NM_001407676.1:c.4554delA NP_001394605.1:p.Thr1519Profs frameshift NM_001407677.1:c.4554delA NP_001394606.1:p.Thr1519Profs frameshift NM_001407678.1:c.4554delA NP_001394607.1:p.Thr1519Profs frameshift NM_001407679.1:c.4554delA NP_001394608.1:p.Thr1519Profs frameshift NM_001407680.1:c.4554delA NP_001394609.1:p.Thr1519Profs frameshift NM_001407681.1:c.4551delA NP_001394610.1:p.Thr1518Profs frameshift NM_001407682.1:c.4551delA NP_001394611.1:p.Thr1518Profs frameshift NM_001407683.1:c.4551delA NP_001394612.1:p.Thr1518Profs frameshift NM_001407684.1:c.4680delA NP_001394613.1:p.Thr1561Profs frameshift NM_001407685.1:c.4551delA NP_001394614.1:p.Thr1518Profs frameshift NM_001407686.1:c.4551delA NP_001394615.1:p.Thr1518Profs frameshift NM_001407687.1:c.4551delA NP_001394616.1:p.Thr1518Profs frameshift NM_001407688.1:c.4551delA NP_001394617.1:p.Thr1518Profs frameshift NM_001407689.1:c.4551delA NP_001394618.1:p.Thr1518Profs frameshift NM_001407690.1:c.4548delA NP_001394619.1:p.Thr1517Profs frameshift NM_001407691.1:c.4548delA NP_001394620.1:p.Thr1517Profs frameshift NM_001407692.1:c.4539delA NP_001394621.1:p.Thr1514Profs frameshift NM_001407694.1:c.4539delA NP_001394623.1:p.Thr1514Profs frameshift NM_001407695.1:c.4539delA NP_001394624.1:p.Thr1514Profs frameshift NM_001407696.1:c.4539delA NP_001394625.1:p.Thr1514Profs frameshift NM_001407697.1:c.4539delA NP_001394626.1:p.Thr1514Profs frameshift NM_001407698.1:c.4539delA NP_001394627.1:p.Thr1514Profs frameshift NM_001407724.1:c.4539delA NP_001394653.1:p.Thr1514Profs frameshift NM_001407725.1:c.4539delA NP_001394654.1:p.Thr1514Profs frameshift NM_001407726.1:c.4539delA NP_001394655.1:p.Thr1514Profs frameshift NM_001407727.1:c.4539delA NP_001394656.1:p.Thr1514Profs frameshift NM_001407728.1:c.4539delA NP_001394657.1:p.Thr1514Profs frameshift NM_001407729.1:c.4539delA NP_001394658.1:p.Thr1514Profs frameshift NM_001407730.1:c.4539delA NP_001394659.1:p.Thr1514Profs frameshift NM_001407731.1:c.4539delA NP_001394660.1:p.Thr1514Profs frameshift NM_001407732.1:c.4536delA NP_001394661.1:p.Thr1513Profs frameshift NM_001407733.1:c.4536delA NP_001394662.1:p.Thr1513Profs frameshift NM_001407734.1:c.4536delA NP_001394663.1:p.Thr1513Profs frameshift NM_001407735.1:c.4536delA NP_001394664.1:p.Thr1513Profs frameshift NM_001407736.1:c.4536delA NP_001394665.1:p.Thr1513Profs frameshift NM_001407737.1:c.4536delA NP_001394666.1:p.Thr1513Profs frameshift NM_001407738.1:c.4536delA NP_001394667.1:p.Thr1513Profs frameshift NM_001407739.1:c.4536delA NP_001394668.1:p.Thr1513Profs frameshift NM_001407740.1:c.4536delA NP_001394669.1:p.Thr1513Profs frameshift NM_001407741.1:c.4536delA NP_001394670.1:p.Thr1513Profs frameshift NM_001407742.1:c.4536delA NP_001394671.1:p.Thr1513Profs frameshift NM_001407743.1:c.4536delA NP_001394672.1:p.Thr1513Profs frameshift NM_001407744.1:c.4536delA NP_001394673.1:p.Thr1513Profs frameshift NM_001407745.1:c.4536delA NP_001394674.1:p.Thr1513Profs frameshift NM_001407746.1:c.4536delA NP_001394675.1:p.Thr1513Profs frameshift NM_001407747.1:c.4536delA NP_001394676.1:p.Thr1513Profs frameshift NM_001407748.1:c.4536delA NP_001394677.1:p.Thr1513Profs frameshift NM_001407749.1:c.4536delA NP_001394678.1:p.Thr1513Profs frameshift NM_001407750.1:c.4536delA NP_001394679.1:p.Thr1513Profs frameshift NM_001407751.1:c.4536delA NP_001394680.1:p.Thr1513Profs frameshift NM_001407752.1:c.4536delA NP_001394681.1:p.Thr1513Profs frameshift NM_001407838.1:c.4533delA NP_001394767.1:p.Thr1512Profs frameshift NM_001407839.1:c.4533delA NP_001394768.1:p.Thr1512Profs frameshift NM_001407841.1:c.4533delA NP_001394770.1:p.Thr1512Profs frameshift NM_001407842.1:c.4533delA NP_001394771.1:p.Thr1512Profs frameshift NM_001407843.1:c.4533delA NP_001394772.1:p.Thr1512Profs frameshift NM_001407844.1:c.4533delA NP_001394773.1:p.Thr1512Profs frameshift NM_001407845.1:c.4533delA NP_001394774.1:p.Thr1512Profs frameshift NM_001407846.1:c.4533delA NP_001394775.1:p.Thr1512Profs frameshift NM_001407847.1:c.4533delA NP_001394776.1:p.Thr1512Profs frameshift NM_001407848.1:c.4533delA NP_001394777.1:p.Thr1512Profs frameshift NM_001407849.1:c.4533delA NP_001394778.1:p.Thr1512Profs frameshift NM_001407850.1:c.4533delA NP_001394779.1:p.Thr1512Profs frameshift NM_001407851.1:c.4533delA NP_001394780.1:p.Thr1512Profs frameshift NM_001407852.1:c.4533delA NP_001394781.1:p.Thr1512Profs frameshift NM_001407853.1:c.4533delA NP_001394782.1:p.Thr1512Profs frameshift NM_001407854.1:c.4680delA NP_001394783.1:p.Thr1561Profs frameshift NM_001407858.1:c.4677delA NP_001394787.1:p.Thr1560Profs frameshift NM_001407859.1:c.4677delA NP_001394788.1:p.Thr1560Profs frameshift NM_001407860.1:c.4677delA NP_001394789.1:p.Thr1560Profs frameshift NM_001407861.1:c.4674delA NP_001394790.1:p.Thr1559Profs frameshift NM_001407862.1:c.4479delA NP_001394791.1:p.Thr1494Profs frameshift NM_001407863.1:c.4554delA NP_001394792.1:p.Thr1519Profs frameshift NM_001407874.1:c.4473delA NP_001394803.1:p.Thr1492Profs frameshift NM_001407875.1:c.4473delA NP_001394804.1:p.Thr1492Profs frameshift NM_001407879.1:c.4470delA NP_001394808.1:p.Thr1491Profs frameshift NM_001407881.1:c.4470delA NP_001394810.1:p.Thr1491Profs frameshift NM_001407882.1:c.4470delA NP_001394811.1:p.Thr1491Profs frameshift NM_001407884.1:c.4470delA NP_001394813.1:p.Thr1491Profs frameshift NM_001407885.1:c.4470delA NP_001394814.1:p.Thr1491Profs frameshift NM_001407886.1:c.4470delA NP_001394815.1:p.Thr1491Profs frameshift NM_001407887.1:c.4470delA NP_001394816.1:p.Thr1491Profs frameshift NM_001407889.1:c.4470delA NP_001394818.1:p.Thr1491Profs frameshift NM_001407894.1:c.4467delA NP_001394823.1:p.Thr1490Profs frameshift NM_001407895.1:c.4467delA NP_001394824.1:p.Thr1490Profs frameshift NM_001407896.1:c.4467delA NP_001394825.1:p.Thr1490Profs frameshift NM_001407897.1:c.4467delA NP_001394826.1:p.Thr1490Profs frameshift NM_001407898.1:c.4467delA NP_001394827.1:p.Thr1490Profs frameshift NM_001407899.1:c.4467delA NP_001394828.1:p.Thr1490Profs frameshift NM_001407900.1:c.4467delA NP_001394829.1:p.Thr1490Profs frameshift NM_001407902.1:c.4467delA NP_001394831.1:p.Thr1490Profs frameshift NM_001407904.1:c.4467delA NP_001394833.1:p.Thr1490Profs frameshift NM_001407906.1:c.4467delA NP_001394835.1:p.Thr1490Profs frameshift NM_001407907.1:c.4467delA NP_001394836.1:p.Thr1490Profs frameshift NM_001407908.1:c.4467delA NP_001394837.1:p.Thr1490Profs frameshift NM_001407909.1:c.4467delA NP_001394838.1:p.Thr1490Profs frameshift NM_001407910.1:c.4467delA NP_001394839.1:p.Thr1490Profs frameshift NM_001407915.1:c.4464delA NP_001394844.1:p.Thr1489Profs frameshift NM_001407916.1:c.4464delA NP_001394845.1:p.Thr1489Profs frameshift NM_001407917.1:c.4464delA NP_001394846.1:p.Thr1489Profs frameshift NM_001407918.1:c.4464delA NP_001394847.1:p.Thr1489Profs frameshift NM_001407919.1:c.4557delA NP_001394848.1:p.Thr1520Profs frameshift NM_001407920.1:c.4416delA NP_001394849.1:p.Thr1473Profs frameshift NM_001407921.1:c.4416delA NP_001394850.1:p.Thr1473Profs frameshift NM_001407922.1:c.4416delA NP_001394851.1:p.Thr1473Profs frameshift NM_001407923.1:c.4416delA NP_001394852.1:p.Thr1473Profs frameshift NM_001407924.1:c.4416delA NP_001394853.1:p.Thr1473Profs frameshift NM_001407925.1:c.4416delA NP_001394854.1:p.Thr1473Profs frameshift NM_001407926.1:c.4416delA NP_001394855.1:p.Thr1473Profs frameshift NM_001407927.1:c.4413delA NP_001394856.1:p.Thr1472Profs frameshift NM_001407928.1:c.4413delA NP_001394857.1:p.Thr1472Profs frameshift NM_001407929.1:c.4413delA NP_001394858.1:p.Thr1472Profs frameshift NM_001407930.1:c.4413delA NP_001394859.1:p.Thr1472Profs frameshift NM_001407931.1:c.4413delA NP_001394860.1:p.Thr1472Profs frameshift NM_001407932.1:c.4413delA NP_001394861.1:p.Thr1472Profs frameshift NM_001407933.1:c.4413delA NP_001394862.1:p.Thr1472Profs frameshift NM_001407934.1:c.4410delA NP_001394863.1:p.Thr1471Profs frameshift NM_001407935.1:c.4410delA NP_001394864.1:p.Thr1471Profs frameshift NM_001407936.1:c.4410delA NP_001394865.1:p.Thr1471Profs frameshift NM_001407937.1:c.4557delA NP_001394866.1:p.Thr1520Profs frameshift NM_001407938.1:c.4557delA NP_001394867.1:p.Thr1520Profs frameshift NM_001407939.1:c.4554delA NP_001394868.1:p.Thr1519Profs frameshift NM_001407940.1:c.4554delA NP_001394869.1:p.Thr1519Profs frameshift NM_001407941.1:c.4551delA NP_001394870.1:p.Thr1518Profs frameshift NM_001407942.1:c.4539delA NP_001394871.1:p.Thr1514Profs frameshift NM_001407943.1:c.4536delA NP_001394872.1:p.Thr1513Profs frameshift NM_001407944.1:c.4536delA NP_001394873.1:p.Thr1513Profs frameshift NM_001407945.1:c.4536delA NP_001394874.1:p.Thr1513Profs frameshift NM_001407946.1:c.4347delA NP_001394875.1:p.Thr1450Profs frameshift NM_001407947.1:c.4347delA NP_001394876.1:p.Thr1450Profs frameshift NM_001407948.1:c.4347delA NP_001394877.1:p.Thr1450Profs frameshift NM_001407949.1:c.4347delA NP_001394878.1:p.Thr1450Profs frameshift NM_001407950.1:c.4344delA NP_001394879.1:p.Thr1449Profs frameshift NM_001407951.1:c.4344delA NP_001394880.1:p.Thr1449Profs frameshift NM_001407952.1:c.4344delA NP_001394881.1:p.Thr1449Profs frameshift NM_001407953.1:c.4344delA NP_001394882.1:p.Thr1449Profs frameshift NM_001407954.1:c.4344delA NP_001394883.1:p.Thr1449Profs frameshift NM_001407955.1:c.4344delA NP_001394884.1:p.Thr1449Profs frameshift NM_001407956.1:c.4341delA NP_001394885.1:p.Thr1448Profs frameshift NM_001407957.1:c.4341delA NP_001394886.1:p.Thr1448Profs frameshift NM_001407958.1:c.4341delA NP_001394887.1:p.Thr1448Profs frameshift NM_001407959.1:c.4299delA NP_001394888.1:p.Thr1434Profs frameshift NM_001407960.1:c.4296delA NP_001394889.1:p.Thr1433Profs frameshift NM_001407962.1:c.4296delA NP_001394891.1:p.Thr1433Profs frameshift NM_001407963.1:c.4293delA NP_001394892.1:p.Thr1432Profs frameshift NM_001407964.1:c.4218delA NP_001394893.1:p.Thr1407Profs frameshift NM_001407965.1:c.4173delA NP_001394894.1:p.Thr1392Profs frameshift NM_001407966.1:c.3792delA NP_001394895.1:p.Thr1265Profs frameshift NM_001407967.1:c.3789delA NP_001394896.1:p.Thr1264Profs frameshift NM_001407968.1:c.2076delA NP_001394897.1:p.Thr693Profs frameshift NM_001407969.1:c.2073delA NP_001394898.1:p.Thr692Profs frameshift NM_001407970.1:c.1437delA NP_001394899.1:p.Thr480Profs frameshift NM_001407971.1:c.1437delA NP_001394900.1:p.Thr480Profs frameshift NM_001407972.1:c.1434delA NP_001394901.1:p.Thr479Profs frameshift NM_001407973.1:c.1371delA NP_001394902.1:p.Thr458Profs frameshift NM_001407974.1:c.1371delA NP_001394903.1:p.Thr458Profs frameshift NM_001407975.1:c.1371delA NP_001394904.1:p.Thr458Profs frameshift NM_001407976.1:c.1371delA NP_001394905.1:p.Thr458Profs frameshift NM_001407977.1:c.1371delA NP_001394906.1:p.Thr458Profs frameshift NM_001407978.1:c.1371delA NP_001394907.1:p.Thr458Profs frameshift NM_001407979.1:c.1368delA NP_001394908.1:p.Thr457Profs frameshift NM_001407980.1:c.1368delA NP_001394909.1:p.Thr457Profs frameshift NM_001407981.1:c.1368delA NP_001394910.1:p.Thr457Profs frameshift NM_001407982.1:c.1368delA NP_001394911.1:p.Thr457Profs frameshift NM_001407983.1:c.1368delA NP_001394912.1:p.Thr457Profs frameshift NM_001407984.1:c.1368delA NP_001394913.1:p.Thr457Profs frameshift NM_001407985.1:c.1368delA NP_001394914.1:p.Thr457Profs frameshift NM_001407986.1:c.1368delA NP_001394915.1:p.Thr457Profs frameshift NM_001407990.1:c.1368delA NP_001394919.1:p.Thr457Profs frameshift NM_001407991.1:c.1368delA NP_001394920.1:p.Thr457Profs frameshift NM_001407992.1:c.1368delA NP_001394921.1:p.Thr457Profs frameshift NM_001407993.1:c.1368delA NP_001394922.1:p.Thr457Profs frameshift NM_001408392.1:c.1365delA NP_001395321.1:p.Thr456Profs frameshift NM_001408396.1:c.1365delA NP_001395325.1:p.Thr456Profs frameshift NM_001408397.1:c.1365delA NP_001395326.1:p.Thr456Profs frameshift NM_001408398.1:c.1365delA NP_001395327.1:p.Thr456Profs frameshift NM_001408399.1:c.1365delA NP_001395328.1:p.Thr456Profs frameshift NM_001408400.1:c.1365delA NP_001395329.1:p.Thr456Profs frameshift NM_001408401.1:c.1365delA NP_001395330.1:p.Thr456Profs frameshift NM_001408402.1:c.1365delA NP_001395331.1:p.Thr456Profs frameshift NM_001408403.1:c.1365delA NP_001395332.1:p.Thr456Profs frameshift NM_001408404.1:c.1365delA NP_001395333.1:p.Thr456Profs frameshift NM_001408406.1:c.1362delA NP_001395335.1:p.Thr455Profs frameshift NM_001408407.1:c.1362delA NP_001395336.1:p.Thr455Profs frameshift NM_001408408.1:c.1362delA NP_001395337.1:p.Thr455Profs frameshift NM_001408409.1:c.1359delA NP_001395338.1:p.Thr454Profs frameshift NM_001408410.1:c.1296delA NP_001395339.1:p.Thr433Profs frameshift NM_001408411.1:c.1293delA NP_001395340.1:p.Thr432Profs frameshift NM_001408412.1:c.1290delA NP_001395341.1:p.Thr431Profs frameshift NM_001408413.1:c.1290delA NP_001395342.1:p.Thr431Profs frameshift NM_001408414.1:c.1290delA NP_001395343.1:p.Thr431Profs frameshift NM_001408415.1:c.1290delA NP_001395344.1:p.Thr431Profs frameshift NM_001408416.1:c.1290delA NP_001395345.1:p.Thr431Profs frameshift NM_001408418.1:c.1254delA NP_001395347.1:p.Thr419Profs frameshift NM_001408419.1:c.1254delA NP_001395348.1:p.Thr419Profs frameshift NM_001408420.1:c.1254delA NP_001395349.1:p.Thr419Profs frameshift NM_001408421.1:c.1251delA NP_001395350.1:p.Thr418Profs frameshift NM_001408422.1:c.1251delA NP_001395351.1:p.Thr418Profs frameshift NM_001408423.1:c.1251delA NP_001395352.1:p.Thr418Profs frameshift NM_001408424.1:c.1251delA NP_001395353.1:p.Thr418Profs frameshift NM_001408425.1:c.1248delA NP_001395354.1:p.Thr417Profs frameshift NM_001408426.1:c.1248delA NP_001395355.1:p.Thr417Profs frameshift NM_001408427.1:c.1248delA NP_001395356.1:p.Thr417Profs frameshift NM_001408428.1:c.1248delA NP_001395357.1:p.Thr417Profs frameshift NM_001408429.1:c.1248delA NP_001395358.1:p.Thr417Profs frameshift NM_001408430.1:c.1248delA NP_001395359.1:p.Thr417Profs frameshift NM_001408431.1:c.1248delA NP_001395360.1:p.Thr417Profs frameshift NM_001408432.1:c.1245delA NP_001395361.1:p.Thr416Profs frameshift NM_001408433.1:c.1245delA NP_001395362.1:p.Thr416Profs frameshift NM_001408434.1:c.1245delA NP_001395363.1:p.Thr416Profs frameshift NM_001408435.1:c.1245delA NP_001395364.1:p.Thr416Profs frameshift NM_001408436.1:c.1245delA NP_001395365.1:p.Thr416Profs frameshift NM_001408437.1:c.1245delA NP_001395366.1:p.Thr416Profs frameshift NM_001408438.1:c.1245delA NP_001395367.1:p.Thr416Profs frameshift NM_001408439.1:c.1245delA NP_001395368.1:p.Thr416Profs frameshift NM_001408440.1:c.1245delA NP_001395369.1:p.Thr416Profs frameshift NM_001408441.1:c.1245delA NP_001395370.1:p.Thr416Profs frameshift NM_001408442.1:c.1245delA NP_001395371.1:p.Thr416Profs frameshift NM_001408443.1:c.1245delA NP_001395372.1:p.Thr416Profs frameshift NM_001408444.1:c.1245delA NP_001395373.1:p.Thr416Profs frameshift NM_001408445.1:c.1242delA NP_001395374.1:p.Thr415Profs frameshift NM_001408446.1:c.1242delA NP_001395375.1:p.Thr415Profs frameshift NM_001408447.1:c.1242delA NP_001395376.1:p.Thr415Profs frameshift NM_001408448.1:c.1242delA NP_001395377.1:p.Thr415Profs frameshift NM_001408450.1:c.1242delA NP_001395379.1:p.Thr415Profs frameshift NM_001408451.1:c.1236delA NP_001395380.1:p.Thr413Profs frameshift NM_001408452.1:c.1230delA NP_001395381.1:p.Thr411Profs frameshift NM_001408453.1:c.1230delA NP_001395382.1:p.Thr411Profs frameshift NM_001408454.1:c.1230delA NP_001395383.1:p.Thr411Profs frameshift NM_001408455.1:c.1230delA NP_001395384.1:p.Thr411Profs frameshift NM_001408456.1:c.1230delA NP_001395385.1:p.Thr411Profs frameshift NM_001408457.1:c.1230delA NP_001395386.1:p.Thr411Profs frameshift NM_001408458.1:c.1227delA NP_001395387.1:p.Thr410Profs frameshift NM_001408459.1:c.1227delA NP_001395388.1:p.Thr410Profs frameshift NM_001408460.1:c.1227delA NP_001395389.1:p.Thr410Profs frameshift NM_001408461.1:c.1227delA NP_001395390.1:p.Thr410Profs frameshift NM_001408462.1:c.1227delA NP_001395391.1:p.Thr410Profs frameshift NM_001408463.1:c.1227delA NP_001395392.1:p.Thr410Profs frameshift NM_001408464.1:c.1227delA NP_001395393.1:p.Thr410Profs frameshift NM_001408465.1:c.1227delA NP_001395394.1:p.Thr410Profs frameshift NM_001408466.1:c.1227delA NP_001395395.1:p.Thr410Profs frameshift NM_001408467.1:c.1227delA NP_001395396.1:p.Thr410Profs frameshift NM_001408468.1:c.1224delA NP_001395397.1:p.Thr409Profs frameshift NM_001408469.1:c.1224delA NP_001395398.1:p.Thr409Profs frameshift NM_001408470.1:c.1224delA NP_001395399.1:p.Thr409Profs frameshift NM_001408472.1:c.1368delA NP_001395401.1:p.Thr457Profs frameshift NM_001408473.1:c.1365delA NP_001395402.1:p.Thr456Profs frameshift NM_001408474.1:c.1170delA NP_001395403.1:p.Thr391Profs frameshift NM_001408475.1:c.1167delA NP_001395404.1:p.Thr390Profs frameshift NM_001408476.1:c.1167delA NP_001395405.1:p.Thr390Profs frameshift NM_001408478.1:c.1161delA NP_001395407.1:p.Thr388Profs frameshift NM_001408479.1:c.1161delA NP_001395408.1:p.Thr388Profs frameshift NM_001408480.1:c.1161delA NP_001395409.1:p.Thr388Profs frameshift NM_001408481.1:c.1158delA NP_001395410.1:p.Thr387Profs frameshift NM_001408482.1:c.1158delA NP_001395411.1:p.Thr387Profs frameshift NM_001408483.1:c.1158delA NP_001395412.1:p.Thr387Profs frameshift NM_001408484.1:c.1158delA NP_001395413.1:p.Thr387Profs frameshift NM_001408485.1:c.1158delA NP_001395414.1:p.Thr387Profs frameshift NM_001408489.1:c.1158delA NP_001395418.1:p.Thr387Profs frameshift NM_001408490.1:c.1158delA NP_001395419.1:p.Thr387Profs frameshift NM_001408491.1:c.1158delA NP_001395420.1:p.Thr387Profs frameshift NM_001408492.1:c.1155delA NP_001395421.1:p.Thr386Profs frameshift NM_001408493.1:c.1155delA NP_001395422.1:p.Thr386Profs frameshift NM_001408494.1:c.1131delA NP_001395423.1:p.Thr378Profs frameshift NM_001408495.1:c.1125delA NP_001395424.1:p.Thr376Profs frameshift NM_001408496.1:c.1107delA NP_001395425.1:p.Thr370Profs frameshift NM_001408497.1:c.1107delA NP_001395426.1:p.Thr370Profs frameshift NM_001408498.1:c.1107delA NP_001395427.1:p.Thr370Profs frameshift NM_001408499.1:c.1107delA NP_001395428.1:p.Thr370Profs frameshift NM_001408500.1:c.1107delA NP_001395429.1:p.Thr370Profs frameshift NM_001408501.1:c.1107delA NP_001395430.1:p.Thr370Profs frameshift NM_001408502.1:c.1104delA NP_001395431.1:p.Thr369Profs frameshift NM_001408503.1:c.1104delA NP_001395432.1:p.Thr369Profs frameshift NM_001408504.1:c.1104delA NP_001395433.1:p.Thr369Profs frameshift NM_001408505.1:c.1101delA NP_001395434.1:p.Thr368Profs frameshift NM_001408506.1:c.1044delA NP_001395435.1:p.Thr349Profs frameshift NM_001408507.1:c.1041delA NP_001395436.1:p.Thr348Profs frameshift NM_001408508.1:c.1032delA NP_001395437.1:p.Thr345Profs frameshift NM_001408509.1:c.1029delA NP_001395438.1:p.Thr344Profs frameshift NM_001408510.1:c.990delA NP_001395439.1:p.Thr331Profs frameshift NM_001408511.1:c.987delA NP_001395440.1:p.Thr330Profs frameshift NM_001408512.1:c.867delA NP_001395441.1:p.Thr290Profs frameshift NM_001408513.1:c.840delA NP_001395442.1:p.Thr281Profs frameshift NM_007294.3:c.4681delA frameshift NM_007297.4:c.4540del NP_009228.2:p.Thr1514fs frameshift NM_007298.4:c.1368delA NP_009229.2:p.Thr457Profs frameshift NM_007299.4:c.1369del NP_009230.2:p.Thr457fs frameshift NM_007300.4:c.4744del NP_009231.2:p.Thr1582fs frameshift NM_007304.2:c.1368delA NP_009235.2:p.Thr457Profs frameshift NR_027676.2:n.4858del non-coding transcript variant NC_000017.11:g.43071234del NC_000017.10:g.41223251del NG_005905.2:g.146751del LRG_292:g.146751del LRG_292t1:c.4680del LRG_292p1:p.Thr1561Profs - Protein change
- T1561fs, T1582fs, T1514fs, T457fs
- Other names
-
4800delA-ter1600
- Canonical SPDI
- NC_000017.11:43071232:TT: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 |
13041 | 14847 | |
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 (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257350.13 |
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)
|
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: SCV000323785.2
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)
|
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: SCV000326030.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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 rs397509187 ...
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 Nov 03, 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.