Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4596_4597insCT (p.Asp1533fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Dec 2017 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4596_4597insCT (p.Asp1533fs)
Variation ID: 548312 Accession: VCV000548312.2
- Type and length
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Insertion, 2 bp
- Location
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Cytogenetic: 17q21.31 17: 43074409-43074410 (GRCh38) [ NCBI UCSC ] 17: 41226426-41226427 (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 Jul 13, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4596_4597insCT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp1533fs frameshift NM_001407571.1:c.4382_4383insTC NP_001394500.1:p.Asp1462Leufs frameshift NM_001407581.1:c.4661_4662insTC NP_001394510.1:p.Asp1555Leufs frameshift NM_001407582.1:c.4661_4662insTC NP_001394511.1:p.Asp1555Leufs frameshift NM_001407583.1:c.4658_4659insTC NP_001394512.1:p.Asp1554Leufs frameshift NM_001407585.1:c.4658_4659insTC NP_001394514.1:p.Asp1554Leufs frameshift NM_001407587.1:c.4658_4659insTC NP_001394516.1:p.Asp1554Leufs frameshift NM_001407590.1:c.4655_4656insTC NP_001394519.1:p.Asp1553Leufs frameshift NM_001407591.1:c.4655_4656insTC NP_001394520.1:p.Asp1553Leufs frameshift NM_001407593.1:c.4595_4596insTC NP_001394522.1:p.Asp1533Leufs frameshift NM_001407594.1:c.4595_4596insTC NP_001394523.1:p.Asp1533Leufs frameshift NM_001407596.1:c.4595_4596insTC NP_001394525.1:p.Asp1533Leufs frameshift NM_001407597.1:c.4595_4596insTC NP_001394526.1:p.Asp1533Leufs frameshift NM_001407598.1:c.4595_4596insTC NP_001394527.1:p.Asp1533Leufs frameshift NM_001407602.1:c.4595_4596insTC NP_001394531.1:p.Asp1533Leufs frameshift NM_001407603.1:c.4595_4596insTC NP_001394532.1:p.Asp1533Leufs frameshift NM_001407605.1:c.4595_4596insTC NP_001394534.1:p.Asp1533Leufs frameshift NM_001407610.1:c.4592_4593insTC NP_001394539.1:p.Asp1532Leufs frameshift NM_001407611.1:c.4592_4593insTC NP_001394540.1:p.Asp1532Leufs frameshift NM_001407612.1:c.4592_4593insTC NP_001394541.1:p.Asp1532Leufs frameshift NM_001407613.1:c.4592_4593insTC NP_001394542.1:p.Asp1532Leufs frameshift NM_001407614.1:c.4592_4593insTC NP_001394543.1:p.Asp1532Leufs frameshift NM_001407615.1:c.4592_4593insTC NP_001394544.1:p.Asp1532Leufs frameshift NM_001407616.1:c.4592_4593insTC NP_001394545.1:p.Asp1532Leufs frameshift NM_001407617.1:c.4592_4593insTC NP_001394546.1:p.Asp1532Leufs frameshift NM_001407618.1:c.4592_4593insTC NP_001394547.1:p.Asp1532Leufs frameshift NM_001407619.1:c.4592_4593insTC NP_001394548.1:p.Asp1532Leufs frameshift NM_001407620.1:c.4592_4593insTC NP_001394549.1:p.Asp1532Leufs frameshift NM_001407621.1:c.4592_4593insTC NP_001394550.1:p.Asp1532Leufs frameshift NM_001407622.1:c.4592_4593insTC NP_001394551.1:p.Asp1532Leufs frameshift NM_001407623.1:c.4592_4593insTC NP_001394552.1:p.Asp1532Leufs frameshift NM_001407624.1:c.4592_4593insTC NP_001394553.1:p.Asp1532Leufs frameshift NM_001407625.1:c.4592_4593insTC NP_001394554.1:p.Asp1532Leufs frameshift NM_001407626.1:c.4592_4593insTC NP_001394555.1:p.Asp1532Leufs frameshift NM_001407627.1:c.4589_4590insTC NP_001394556.1:p.Asp1531Leufs frameshift NM_001407628.1:c.4589_4590insTC NP_001394557.1:p.Asp1531Leufs frameshift NM_001407629.1:c.4589_4590insTC NP_001394558.1:p.Asp1531Leufs frameshift NM_001407630.1:c.4589_4590insTC NP_001394559.1:p.Asp1531Leufs frameshift NM_001407631.1:c.4589_4590insTC NP_001394560.1:p.Asp1531Leufs frameshift NM_001407632.1:c.4589_4590insTC NP_001394561.1:p.Asp1531Leufs frameshift NM_001407633.1:c.4589_4590insTC NP_001394562.1:p.Asp1531Leufs frameshift NM_001407634.1:c.4589_4590insTC NP_001394563.1:p.Asp1531Leufs frameshift NM_001407635.1:c.4589_4590insTC NP_001394564.1:p.Asp1531Leufs frameshift NM_001407636.1:c.4589_4590insTC NP_001394565.1:p.Asp1531Leufs frameshift NM_001407637.1:c.4589_4590insTC NP_001394566.1:p.Asp1531Leufs frameshift NM_001407638.1:c.4589_4590insTC NP_001394567.1:p.Asp1531Leufs frameshift NM_001407639.1:c.4589_4590insTC NP_001394568.1:p.Asp1531Leufs frameshift NM_001407640.1:c.4589_4590insTC NP_001394569.1:p.Asp1531Leufs frameshift NM_001407641.1:c.4589_4590insTC NP_001394570.1:p.Asp1531Leufs frameshift NM_001407642.1:c.4589_4590insTC NP_001394571.1:p.Asp1531Leufs frameshift NM_001407644.1:c.4586_4587insTC NP_001394573.1:p.Asp1530Leufs frameshift NM_001407645.1:c.4586_4587insTC NP_001394574.1:p.Asp1530Leufs frameshift NM_001407646.1:c.4583_4584insTC NP_001394575.1:p.Asp1529Leufs frameshift NM_001407647.1:c.4580_4581insTC NP_001394576.1:p.Asp1528Leufs frameshift NM_001407648.1:c.4538_4539insTC NP_001394577.1:p.Asp1514Leufs frameshift NM_001407649.1:c.4535_4536insTC NP_001394578.1:p.Asp1513Leufs frameshift NM_001407652.1:c.4595_4596insTC NP_001394581.1:p.Asp1533Leufs frameshift NM_001407653.1:c.4517_4518insTC NP_001394582.1:p.Asp1507Leufs frameshift NM_001407654.1:c.4517_4518insTC NP_001394583.1:p.Asp1507Leufs frameshift NM_001407655.1:c.4517_4518insTC NP_001394584.1:p.Asp1507Leufs frameshift NM_001407656.1:c.4514_4515insTC NP_001394585.1:p.Asp1506Leufs frameshift NM_001407657.1:c.4514_4515insTC NP_001394586.1:p.Asp1506Leufs frameshift NM_001407658.1:c.4514_4515insTC NP_001394587.1:p.Asp1506Leufs frameshift NM_001407659.1:c.4511_4512insTC NP_001394588.1:p.Asp1505Leufs frameshift NM_001407660.1:c.4511_4512insTC NP_001394589.1:p.Asp1505Leufs frameshift NM_001407661.1:c.4511_4512insTC NP_001394590.1:p.Asp1505Leufs frameshift NM_001407662.1:c.4511_4512insTC NP_001394591.1:p.Asp1505Leufs frameshift NM_001407663.1:c.4511_4512insTC NP_001394592.1:p.Asp1505Leufs frameshift NM_001407664.1:c.4472_4473insTC NP_001394593.1:p.Asp1492Leufs frameshift NM_001407665.1:c.4472_4473insTC NP_001394594.1:p.Asp1492Leufs frameshift NM_001407666.1:c.4472_4473insTC NP_001394595.1:p.Asp1492Leufs frameshift NM_001407667.1:c.4472_4473insTC NP_001394596.1:p.Asp1492Leufs frameshift NM_001407668.1:c.4472_4473insTC NP_001394597.1:p.Asp1492Leufs frameshift NM_001407669.1:c.4472_4473insTC NP_001394598.1:p.Asp1492Leufs frameshift NM_001407670.1:c.4469_4470insTC NP_001394599.1:p.Asp1491Leufs frameshift NM_001407671.1:c.4469_4470insTC NP_001394600.1:p.Asp1491Leufs frameshift NM_001407672.1:c.4469_4470insTC NP_001394601.1:p.Asp1491Leufs frameshift NM_001407673.1:c.4469_4470insTC NP_001394602.1:p.Asp1491Leufs frameshift NM_001407674.1:c.4469_4470insTC NP_001394603.1:p.Asp1491Leufs frameshift NM_001407675.1:c.4469_4470insTC NP_001394604.1:p.Asp1491Leufs frameshift NM_001407676.1:c.4469_4470insTC NP_001394605.1:p.Asp1491Leufs frameshift NM_001407677.1:c.4469_4470insTC NP_001394606.1:p.Asp1491Leufs frameshift NM_001407678.1:c.4469_4470insTC NP_001394607.1:p.Asp1491Leufs frameshift NM_001407679.1:c.4469_4470insTC NP_001394608.1:p.Asp1491Leufs frameshift NM_001407680.1:c.4469_4470insTC NP_001394609.1:p.Asp1491Leufs frameshift NM_001407681.1:c.4466_4467insTC NP_001394610.1:p.Asp1490Leufs frameshift NM_001407682.1:c.4466_4467insTC NP_001394611.1:p.Asp1490Leufs frameshift NM_001407683.1:c.4466_4467insTC NP_001394612.1:p.Asp1490Leufs frameshift NM_001407684.1:c.4595_4596insTC NP_001394613.1:p.Asp1533Leufs frameshift NM_001407685.1:c.4466_4467insTC NP_001394614.1:p.Asp1490Leufs frameshift NM_001407686.1:c.4466_4467insTC NP_001394615.1:p.Asp1490Leufs frameshift NM_001407687.1:c.4466_4467insTC NP_001394616.1:p.Asp1490Leufs frameshift NM_001407688.1:c.4466_4467insTC NP_001394617.1:p.Asp1490Leufs frameshift NM_001407689.1:c.4466_4467insTC NP_001394618.1:p.Asp1490Leufs frameshift NM_001407690.1:c.4463_4464insTC NP_001394619.1:p.Asp1489Leufs frameshift NM_001407691.1:c.4463_4464insTC NP_001394620.1:p.Asp1489Leufs frameshift NM_001407692.1:c.4454_4455insTC NP_001394621.1:p.Asp1486Leufs frameshift NM_001407694.1:c.4454_4455insTC NP_001394623.1:p.Asp1486Leufs frameshift NM_001407695.1:c.4454_4455insTC NP_001394624.1:p.Asp1486Leufs frameshift NM_001407696.1:c.4454_4455insTC NP_001394625.1:p.Asp1486Leufs frameshift NM_001407697.1:c.4454_4455insTC NP_001394626.1:p.Asp1486Leufs frameshift NM_001407698.1:c.4454_4455insTC NP_001394627.1:p.Asp1486Leufs frameshift NM_001407724.1:c.4454_4455insTC NP_001394653.1:p.Asp1486Leufs frameshift NM_001407725.1:c.4454_4455insTC NP_001394654.1:p.Asp1486Leufs frameshift NM_001407726.1:c.4454_4455insTC NP_001394655.1:p.Asp1486Leufs frameshift NM_001407727.1:c.4454_4455insTC NP_001394656.1:p.Asp1486Leufs frameshift NM_001407728.1:c.4454_4455insTC NP_001394657.1:p.Asp1486Leufs frameshift NM_001407729.1:c.4454_4455insTC NP_001394658.1:p.Asp1486Leufs frameshift NM_001407730.1:c.4454_4455insTC NP_001394659.1:p.Asp1486Leufs frameshift NM_001407731.1:c.4454_4455insTC NP_001394660.1:p.Asp1486Leufs frameshift NM_001407732.1:c.4451_4452insTC NP_001394661.1:p.Asp1485Leufs frameshift NM_001407733.1:c.4451_4452insTC NP_001394662.1:p.Asp1485Leufs frameshift NM_001407734.1:c.4451_4452insTC NP_001394663.1:p.Asp1485Leufs frameshift NM_001407735.1:c.4451_4452insTC NP_001394664.1:p.Asp1485Leufs frameshift NM_001407736.1:c.4451_4452insTC NP_001394665.1:p.Asp1485Leufs frameshift NM_001407737.1:c.4451_4452insTC NP_001394666.1:p.Asp1485Leufs frameshift NM_001407738.1:c.4451_4452insTC NP_001394667.1:p.Asp1485Leufs frameshift NM_001407739.1:c.4451_4452insTC NP_001394668.1:p.Asp1485Leufs frameshift NM_001407740.1:c.4451_4452insTC NP_001394669.1:p.Asp1485Leufs frameshift NM_001407741.1:c.4451_4452insTC NP_001394670.1:p.Asp1485Leufs frameshift NM_001407742.1:c.4451_4452insTC NP_001394671.1:p.Asp1485Leufs frameshift NM_001407743.1:c.4451_4452insTC NP_001394672.1:p.Asp1485Leufs frameshift NM_001407744.1:c.4451_4452insTC NP_001394673.1:p.Asp1485Leufs frameshift NM_001407745.1:c.4451_4452insTC NP_001394674.1:p.Asp1485Leufs frameshift NM_001407746.1:c.4451_4452insTC NP_001394675.1:p.Asp1485Leufs frameshift NM_001407747.1:c.4451_4452insTC NP_001394676.1:p.Asp1485Leufs frameshift NM_001407748.1:c.4451_4452insTC NP_001394677.1:p.Asp1485Leufs frameshift NM_001407749.1:c.4451_4452insTC NP_001394678.1:p.Asp1485Leufs frameshift NM_001407750.1:c.4451_4452insTC NP_001394679.1:p.Asp1485Leufs frameshift NM_001407751.1:c.4451_4452insTC NP_001394680.1:p.Asp1485Leufs frameshift NM_001407752.1:c.4451_4452insTC NP_001394681.1:p.Asp1485Leufs frameshift NM_001407838.1:c.4448_4449insTC NP_001394767.1:p.Asp1484Leufs frameshift NM_001407839.1:c.4448_4449insTC NP_001394768.1:p.Asp1484Leufs frameshift NM_001407841.1:c.4448_4449insTC NP_001394770.1:p.Asp1484Leufs frameshift NM_001407842.1:c.4448_4449insTC NP_001394771.1:p.Asp1484Leufs frameshift NM_001407843.1:c.4448_4449insTC NP_001394772.1:p.Asp1484Leufs frameshift NM_001407844.1:c.4448_4449insTC NP_001394773.1:p.Asp1484Leufs frameshift NM_001407845.1:c.4448_4449insTC NP_001394774.1:p.Asp1484Leufs frameshift NM_001407846.1:c.4448_4449insTC NP_001394775.1:p.Asp1484Leufs frameshift NM_001407847.1:c.4448_4449insTC NP_001394776.1:p.Asp1484Leufs frameshift NM_001407848.1:c.4448_4449insTC NP_001394777.1:p.Asp1484Leufs frameshift NM_001407849.1:c.4448_4449insTC NP_001394778.1:p.Asp1484Leufs frameshift NM_001407850.1:c.4448_4449insTC NP_001394779.1:p.Asp1484Leufs frameshift NM_001407851.1:c.4448_4449insTC NP_001394780.1:p.Asp1484Leufs frameshift NM_001407852.1:c.4448_4449insTC NP_001394781.1:p.Asp1484Leufs frameshift NM_001407853.1:c.4448_4449insTC NP_001394782.1:p.Asp1484Leufs frameshift NM_001407854.1:c.4595_4596insTC NP_001394783.1:p.Asp1533Leufs frameshift NM_001407858.1:c.4592_4593insTC NP_001394787.1:p.Asp1532Leufs frameshift NM_001407859.1:c.4592_4593insTC NP_001394788.1:p.Asp1532Leufs frameshift NM_001407860.1:c.4592_4593insTC NP_001394789.1:p.Asp1532Leufs frameshift NM_001407861.1:c.4589_4590insTC NP_001394790.1:p.Asp1531Leufs frameshift NM_001407862.1:c.4394_4395insTC NP_001394791.1:p.Asp1466Leufs frameshift NM_001407863.1:c.4469_4470insTC NP_001394792.1:p.Asp1491Leufs frameshift NM_001407874.1:c.4388_4389insTC NP_001394803.1:p.Asp1464Leufs frameshift NM_001407875.1:c.4388_4389insTC NP_001394804.1:p.Asp1464Leufs frameshift NM_001407879.1:c.4385_4386insTC NP_001394808.1:p.Asp1463Leufs frameshift NM_001407881.1:c.4385_4386insTC NP_001394810.1:p.Asp1463Leufs frameshift NM_001407882.1:c.4385_4386insTC NP_001394811.1:p.Asp1463Leufs frameshift NM_001407884.1:c.4385_4386insTC NP_001394813.1:p.Asp1463Leufs frameshift NM_001407885.1:c.4385_4386insTC NP_001394814.1:p.Asp1463Leufs frameshift NM_001407886.1:c.4385_4386insTC NP_001394815.1:p.Asp1463Leufs frameshift NM_001407887.1:c.4385_4386insTC NP_001394816.1:p.Asp1463Leufs frameshift NM_001407889.1:c.4385_4386insTC NP_001394818.1:p.Asp1463Leufs frameshift NM_001407894.1:c.4382_4383insTC NP_001394823.1:p.Asp1462Leufs frameshift NM_001407895.1:c.4382_4383insTC NP_001394824.1:p.Asp1462Leufs frameshift NM_001407896.1:c.4382_4383insTC NP_001394825.1:p.Asp1462Leufs frameshift NM_001407897.1:c.4382_4383insTC NP_001394826.1:p.Asp1462Leufs frameshift NM_001407898.1:c.4382_4383insTC NP_001394827.1:p.Asp1462Leufs frameshift NM_001407899.1:c.4382_4383insTC NP_001394828.1:p.Asp1462Leufs frameshift NM_001407900.1:c.4382_4383insTC NP_001394829.1:p.Asp1462Leufs frameshift NM_001407902.1:c.4382_4383insTC NP_001394831.1:p.Asp1462Leufs frameshift NM_001407904.1:c.4382_4383insTC NP_001394833.1:p.Asp1462Leufs frameshift NM_001407906.1:c.4382_4383insTC NP_001394835.1:p.Asp1462Leufs frameshift NM_001407907.1:c.4382_4383insTC NP_001394836.1:p.Asp1462Leufs frameshift NM_001407908.1:c.4382_4383insTC NP_001394837.1:p.Asp1462Leufs frameshift NM_001407909.1:c.4382_4383insTC NP_001394838.1:p.Asp1462Leufs frameshift NM_001407910.1:c.4382_4383insTC NP_001394839.1:p.Asp1462Leufs frameshift NM_001407915.1:c.4379_4380insTC NP_001394844.1:p.Asp1461Leufs frameshift NM_001407916.1:c.4379_4380insTC NP_001394845.1:p.Asp1461Leufs frameshift NM_001407917.1:c.4379_4380insTC NP_001394846.1:p.Asp1461Leufs frameshift NM_001407918.1:c.4379_4380insTC NP_001394847.1:p.Asp1461Leufs frameshift NM_001407919.1:c.4472_4473insTC NP_001394848.1:p.Asp1492Leufs frameshift NM_001407920.1:c.4331_4332insTC NP_001394849.1:p.Asp1445Leufs frameshift NM_001407921.1:c.4331_4332insTC NP_001394850.1:p.Asp1445Leufs frameshift NM_001407922.1:c.4331_4332insTC NP_001394851.1:p.Asp1445Leufs frameshift NM_001407923.1:c.4331_4332insTC NP_001394852.1:p.Asp1445Leufs frameshift NM_001407924.1:c.4331_4332insTC NP_001394853.1:p.Asp1445Leufs frameshift NM_001407925.1:c.4331_4332insTC NP_001394854.1:p.Asp1445Leufs frameshift NM_001407926.1:c.4331_4332insTC NP_001394855.1:p.Asp1445Leufs frameshift NM_001407927.1:c.4328_4329insTC NP_001394856.1:p.Asp1444Leufs frameshift NM_001407928.1:c.4328_4329insTC NP_001394857.1:p.Asp1444Leufs frameshift NM_001407929.1:c.4328_4329insTC NP_001394858.1:p.Asp1444Leufs frameshift NM_001407930.1:c.4328_4329insTC NP_001394859.1:p.Asp1444Leufs frameshift NM_001407931.1:c.4328_4329insTC NP_001394860.1:p.Asp1444Leufs frameshift NM_001407932.1:c.4328_4329insTC NP_001394861.1:p.Asp1444Leufs frameshift NM_001407933.1:c.4328_4329insTC NP_001394862.1:p.Asp1444Leufs frameshift NM_001407934.1:c.4325_4326insTC NP_001394863.1:p.Asp1443Leufs frameshift NM_001407935.1:c.4325_4326insTC NP_001394864.1:p.Asp1443Leufs frameshift NM_001407936.1:c.4325_4326insTC NP_001394865.1:p.Asp1443Leufs frameshift NM_001407937.1:c.4472_4473insTC NP_001394866.1:p.Asp1492Leufs frameshift NM_001407938.1:c.4472_4473insTC NP_001394867.1:p.Asp1492Leufs frameshift NM_001407939.1:c.4469_4470insTC NP_001394868.1:p.Asp1491Leufs frameshift NM_001407940.1:c.4469_4470insTC NP_001394869.1:p.Asp1491Leufs frameshift NM_001407941.1:c.4466_4467insTC NP_001394870.1:p.Asp1490Leufs frameshift NM_001407942.1:c.4454_4455insTC NP_001394871.1:p.Asp1486Leufs frameshift NM_001407943.1:c.4451_4452insTC NP_001394872.1:p.Asp1485Leufs frameshift NM_001407944.1:c.4451_4452insTC NP_001394873.1:p.Asp1485Leufs frameshift NM_001407945.1:c.4451_4452insTC NP_001394874.1:p.Asp1485Leufs frameshift NM_001407946.1:c.4262_4263insTC NP_001394875.1:p.Asp1422Leufs frameshift NM_001407947.1:c.4262_4263insTC NP_001394876.1:p.Asp1422Leufs frameshift NM_001407948.1:c.4262_4263insTC NP_001394877.1:p.Asp1422Leufs frameshift NM_001407949.1:c.4262_4263insTC NP_001394878.1:p.Asp1422Leufs frameshift NM_001407950.1:c.4259_4260insTC NP_001394879.1:p.Asp1421Leufs frameshift NM_001407951.1:c.4259_4260insTC NP_001394880.1:p.Asp1421Leufs frameshift NM_001407952.1:c.4259_4260insTC NP_001394881.1:p.Asp1421Leufs frameshift NM_001407953.1:c.4259_4260insTC NP_001394882.1:p.Asp1421Leufs frameshift NM_001407954.1:c.4259_4260insTC NP_001394883.1:p.Asp1421Leufs frameshift NM_001407955.1:c.4259_4260insTC NP_001394884.1:p.Asp1421Leufs frameshift NM_001407956.1:c.4256_4257insTC NP_001394885.1:p.Asp1420Leufs frameshift NM_001407957.1:c.4256_4257insTC NP_001394886.1:p.Asp1420Leufs frameshift NM_001407958.1:c.4256_4257insTC NP_001394887.1:p.Asp1420Leufs frameshift NM_001407959.1:c.4214_4215insTC NP_001394888.1:p.Asp1406Leufs frameshift NM_001407960.1:c.4211_4212insTC NP_001394889.1:p.Asp1405Leufs frameshift NM_001407962.1:c.4211_4212insTC NP_001394891.1:p.Asp1405Leufs frameshift NM_001407963.1:c.4208_4209insTC NP_001394892.1:p.Asp1404Leufs frameshift NM_001407965.1:c.4088_4089insTC NP_001394894.1:p.Asp1364Leufs frameshift NM_001407966.1:c.3707_3708insTC NP_001394895.1:p.Asp1237Leufs frameshift NM_001407967.1:c.3704_3705insTC NP_001394896.1:p.Asp1236Leufs frameshift NM_001407968.1:c.1991_1992insTC NP_001394897.1:p.Asp665Leufs frameshift NM_001407969.1:c.1988_1989insTC NP_001394898.1:p.Asp664Leufs frameshift NM_001407970.1:c.1352_1353insTC NP_001394899.1:p.Asp452Leufs frameshift NM_001407971.1:c.1352_1353insTC NP_001394900.1:p.Asp452Leufs frameshift NM_001407972.1:c.1349_1350insTC NP_001394901.1:p.Asp451Leufs frameshift NM_001407973.1:c.1286_1287insTC NP_001394902.1:p.Asp430Leufs frameshift NM_001407974.1:c.1286_1287insTC NP_001394903.1:p.Asp430Leufs frameshift NM_001407975.1:c.1286_1287insTC NP_001394904.1:p.Asp430Leufs frameshift NM_001407976.1:c.1286_1287insTC NP_001394905.1:p.Asp430Leufs frameshift NM_001407977.1:c.1286_1287insTC NP_001394906.1:p.Asp430Leufs frameshift NM_001407978.1:c.1286_1287insTC NP_001394907.1:p.Asp430Leufs frameshift NM_001407979.1:c.1283_1284insTC NP_001394908.1:p.Asp429Leufs frameshift NM_001407980.1:c.1283_1284insTC NP_001394909.1:p.Asp429Leufs frameshift NM_001407981.1:c.1283_1284insTC NP_001394910.1:p.Asp429Leufs frameshift NM_001407982.1:c.1283_1284insTC NP_001394911.1:p.Asp429Leufs frameshift NM_001407983.1:c.1283_1284insTC NP_001394912.1:p.Asp429Leufs frameshift NM_001407984.1:c.1283_1284insTC NP_001394913.1:p.Asp429Leufs frameshift NM_001407985.1:c.1283_1284insTC NP_001394914.1:p.Asp429Leufs frameshift NM_001407986.1:c.1283_1284insTC NP_001394915.1:p.Asp429Leufs frameshift NM_001407990.1:c.1283_1284insTC NP_001394919.1:p.Asp429Leufs frameshift NM_001407991.1:c.1283_1284insTC NP_001394920.1:p.Asp429Leufs frameshift NM_001407992.1:c.1283_1284insTC NP_001394921.1:p.Asp429Leufs frameshift NM_001407993.1:c.1283_1284insTC NP_001394922.1:p.Asp429Leufs frameshift NM_001408392.1:c.1280_1281insTC NP_001395321.1:p.Asp428Leufs frameshift NM_001408396.1:c.1280_1281insTC NP_001395325.1:p.Asp428Leufs frameshift NM_001408397.1:c.1280_1281insTC NP_001395326.1:p.Asp428Leufs frameshift NM_001408398.1:c.1280_1281insTC NP_001395327.1:p.Asp428Leufs frameshift NM_001408399.1:c.1280_1281insTC NP_001395328.1:p.Asp428Leufs frameshift NM_001408400.1:c.1280_1281insTC NP_001395329.1:p.Asp428Leufs frameshift NM_001408401.1:c.1280_1281insTC NP_001395330.1:p.Asp428Leufs frameshift NM_001408402.1:c.1280_1281insTC NP_001395331.1:p.Asp428Leufs frameshift NM_001408403.1:c.1280_1281insTC NP_001395332.1:p.Asp428Leufs frameshift NM_001408404.1:c.1280_1281insTC NP_001395333.1:p.Asp428Leufs frameshift NM_001408406.1:c.1277_1278insTC NP_001395335.1:p.Asp427Leufs frameshift NM_001408407.1:c.1277_1278insTC NP_001395336.1:p.Asp427Leufs frameshift NM_001408408.1:c.1277_1278insTC NP_001395337.1:p.Asp427Leufs frameshift NM_001408409.1:c.1274_1275insTC NP_001395338.1:p.Asp426Leufs frameshift NM_001408410.1:c.1211_1212insTC NP_001395339.1:p.Asp405Leufs frameshift NM_001408411.1:c.1208_1209insTC NP_001395340.1:p.Asp404Leufs frameshift NM_001408412.1:c.1205_1206insTC NP_001395341.1:p.Asp403Leufs frameshift NM_001408413.1:c.1205_1206insTC NP_001395342.1:p.Asp403Leufs frameshift NM_001408414.1:c.1205_1206insTC NP_001395343.1:p.Asp403Leufs frameshift NM_001408415.1:c.1205_1206insTC NP_001395344.1:p.Asp403Leufs frameshift NM_001408416.1:c.1205_1206insTC NP_001395345.1:p.Asp403Leufs frameshift NM_001408418.1:c.1169_1170insTC NP_001395347.1:p.Asp391Leufs frameshift NM_001408419.1:c.1169_1170insTC NP_001395348.1:p.Asp391Leufs frameshift NM_001408420.1:c.1169_1170insTC NP_001395349.1:p.Asp391Leufs frameshift NM_001408421.1:c.1166_1167insTC NP_001395350.1:p.Asp390Leufs frameshift NM_001408422.1:c.1166_1167insTC NP_001395351.1:p.Asp390Leufs frameshift NM_001408423.1:c.1166_1167insTC NP_001395352.1:p.Asp390Leufs frameshift NM_001408424.1:c.1166_1167insTC NP_001395353.1:p.Asp390Leufs frameshift NM_001408425.1:c.1163_1164insTC NP_001395354.1:p.Asp389Leufs frameshift NM_001408426.1:c.1163_1164insTC NP_001395355.1:p.Asp389Leufs frameshift NM_001408427.1:c.1163_1164insTC NP_001395356.1:p.Asp389Leufs frameshift NM_001408428.1:c.1163_1164insTC NP_001395357.1:p.Asp389Leufs frameshift NM_001408429.1:c.1163_1164insTC NP_001395358.1:p.Asp389Leufs frameshift NM_001408430.1:c.1163_1164insTC NP_001395359.1:p.Asp389Leufs frameshift NM_001408431.1:c.1163_1164insTC NP_001395360.1:p.Asp389Leufs frameshift NM_001408432.1:c.1160_1161insTC NP_001395361.1:p.Asp388Leufs frameshift NM_001408433.1:c.1160_1161insTC NP_001395362.1:p.Asp388Leufs frameshift NM_001408434.1:c.1160_1161insTC NP_001395363.1:p.Asp388Leufs frameshift NM_001408435.1:c.1160_1161insTC NP_001395364.1:p.Asp388Leufs frameshift NM_001408436.1:c.1160_1161insTC NP_001395365.1:p.Asp388Leufs frameshift NM_001408437.1:c.1160_1161insTC NP_001395366.1:p.Asp388Leufs frameshift NM_001408438.1:c.1160_1161insTC NP_001395367.1:p.Asp388Leufs frameshift NM_001408439.1:c.1160_1161insTC NP_001395368.1:p.Asp388Leufs frameshift NM_001408440.1:c.1160_1161insTC NP_001395369.1:p.Asp388Leufs frameshift NM_001408441.1:c.1160_1161insTC NP_001395370.1:p.Asp388Leufs frameshift NM_001408442.1:c.1160_1161insTC NP_001395371.1:p.Asp388Leufs frameshift NM_001408443.1:c.1160_1161insTC NP_001395372.1:p.Asp388Leufs frameshift NM_001408444.1:c.1160_1161insTC NP_001395373.1:p.Asp388Leufs frameshift NM_001408445.1:c.1157_1158insTC NP_001395374.1:p.Asp387Leufs frameshift NM_001408446.1:c.1157_1158insTC NP_001395375.1:p.Asp387Leufs frameshift NM_001408447.1:c.1157_1158insTC NP_001395376.1:p.Asp387Leufs frameshift NM_001408448.1:c.1157_1158insTC NP_001395377.1:p.Asp387Leufs frameshift NM_001408450.1:c.1157_1158insTC NP_001395379.1:p.Asp387Leufs frameshift NM_001408451.1:c.1151_1152insTC NP_001395380.1:p.Asp385Leufs frameshift NM_001408452.1:c.1145_1146insTC NP_001395381.1:p.Asp383Leufs frameshift NM_001408453.1:c.1145_1146insTC NP_001395382.1:p.Asp383Leufs frameshift NM_001408454.1:c.1145_1146insTC NP_001395383.1:p.Asp383Leufs frameshift NM_001408455.1:c.1145_1146insTC NP_001395384.1:p.Asp383Leufs frameshift NM_001408456.1:c.1145_1146insTC NP_001395385.1:p.Asp383Leufs frameshift NM_001408457.1:c.1145_1146insTC NP_001395386.1:p.Asp383Leufs frameshift NM_001408458.1:c.1142_1143insTC NP_001395387.1:p.Asp382Leufs frameshift NM_001408459.1:c.1142_1143insTC NP_001395388.1:p.Asp382Leufs frameshift NM_001408460.1:c.1142_1143insTC NP_001395389.1:p.Asp382Leufs frameshift NM_001408461.1:c.1142_1143insTC NP_001395390.1:p.Asp382Leufs frameshift NM_001408462.1:c.1142_1143insTC NP_001395391.1:p.Asp382Leufs frameshift NM_001408463.1:c.1142_1143insTC NP_001395392.1:p.Asp382Leufs frameshift NM_001408464.1:c.1142_1143insTC NP_001395393.1:p.Asp382Leufs frameshift NM_001408465.1:c.1142_1143insTC NP_001395394.1:p.Asp382Leufs frameshift NM_001408466.1:c.1142_1143insTC NP_001395395.1:p.Asp382Leufs frameshift NM_001408467.1:c.1142_1143insTC NP_001395396.1:p.Asp382Leufs frameshift NM_001408468.1:c.1139_1140insTC NP_001395397.1:p.Asp381Leufs frameshift NM_001408469.1:c.1139_1140insTC NP_001395398.1:p.Asp381Leufs frameshift NM_001408470.1:c.1139_1140insTC NP_001395399.1:p.Asp381Leufs frameshift NM_001408472.1:c.1283_1284insTC NP_001395401.1:p.Asp429Leufs frameshift NM_001408473.1:c.1280_1281insTC NP_001395402.1:p.Asp428Leufs frameshift NM_001408474.1:c.1085_1086insTC NP_001395403.1:p.Asp363Leufs frameshift NM_001408475.1:c.1082_1083insTC NP_001395404.1:p.Asp362Leufs frameshift NM_001408476.1:c.1082_1083insTC NP_001395405.1:p.Asp362Leufs frameshift NM_001408478.1:c.1076_1077insTC NP_001395407.1:p.Asp360Leufs frameshift NM_001408479.1:c.1076_1077insTC NP_001395408.1:p.Asp360Leufs frameshift NM_001408480.1:c.1076_1077insTC NP_001395409.1:p.Asp360Leufs frameshift NM_001408481.1:c.1073_1074insTC NP_001395410.1:p.Asp359Leufs frameshift NM_001408482.1:c.1073_1074insTC NP_001395411.1:p.Asp359Leufs frameshift NM_001408483.1:c.1073_1074insTC NP_001395412.1:p.Asp359Leufs frameshift NM_001408484.1:c.1073_1074insTC NP_001395413.1:p.Asp359Leufs frameshift NM_001408485.1:c.1073_1074insTC NP_001395414.1:p.Asp359Leufs frameshift NM_001408489.1:c.1073_1074insTC NP_001395418.1:p.Asp359Leufs frameshift NM_001408490.1:c.1073_1074insTC NP_001395419.1:p.Asp359Leufs frameshift NM_001408491.1:c.1073_1074insTC NP_001395420.1:p.Asp359Leufs frameshift NM_001408492.1:c.1070_1071insTC NP_001395421.1:p.Asp358Leufs frameshift NM_001408493.1:c.1070_1071insTC NP_001395422.1:p.Asp358Leufs frameshift NM_001408494.1:c.1046_1047insTC NP_001395423.1:p.Asp350Leufs frameshift NM_001408495.1:c.1040_1041insTC NP_001395424.1:p.Asp348Leufs frameshift NM_001408496.1:c.1022_1023insTC NP_001395425.1:p.Asp342Leufs frameshift NM_001408497.1:c.1022_1023insTC NP_001395426.1:p.Asp342Leufs frameshift NM_001408498.1:c.1022_1023insTC NP_001395427.1:p.Asp342Leufs frameshift NM_001408499.1:c.1022_1023insTC NP_001395428.1:p.Asp342Leufs frameshift NM_001408500.1:c.1022_1023insTC NP_001395429.1:p.Asp342Leufs frameshift NM_001408501.1:c.1022_1023insTC NP_001395430.1:p.Asp342Leufs frameshift NM_001408502.1:c.1019_1020insTC NP_001395431.1:p.Asp341Leufs frameshift NM_001408503.1:c.1019_1020insTC NP_001395432.1:p.Asp341Leufs frameshift NM_001408504.1:c.1019_1020insTC NP_001395433.1:p.Asp341Leufs frameshift NM_001408505.1:c.1016_1017insTC NP_001395434.1:p.Asp340Leufs frameshift NM_001408506.1:c.959_960insTC NP_001395435.1:p.Asp321Leufs frameshift NM_001408507.1:c.956_957insTC NP_001395436.1:p.Asp320Leufs frameshift NM_001408508.1:c.947_948insTC NP_001395437.1:p.Asp317Leufs frameshift NM_001408509.1:c.944_945insTC NP_001395438.1:p.Asp316Leufs frameshift NM_001408510.1:c.905_906insTC NP_001395439.1:p.Asp303Leufs frameshift NM_001408511.1:c.902_903insTC NP_001395440.1:p.Asp302Leufs frameshift NM_001408512.1:c.782_783insTC NP_001395441.1:p.Asp262Leufs frameshift NM_007294.3:c.4596_4597insCT NP_009225.1:p.Asp1533fs frameshift NM_007297.4:c.4455_4456insCT NP_009228.2:p.Asp1486fs frameshift NM_007298.4:c.1283_1284insTC NP_009229.2:p.Asp429Leufs frameshift NM_007299.4:c.1284_1285insCT NP_009230.2:p.Asp429fs frameshift NM_007300.4:c.4659_4660insCT NP_009231.2:p.Asp1554fs frameshift NM_007304.2:c.1283_1284insTC NP_009235.2:p.Asp429Leufs frameshift NR_027676.2:n.4773_4774insCT non-coding transcript variant NC_000017.11:g.43074410_43074411insGA NC_000017.10:g.41226427_41226428insGA NG_005905.2:g.143574_143575insCT LRG_292:g.143574_143575insCT LRG_292t1:c.4595_4596insTC LRG_292p1:p.Asp1533Leufs - Protein change
- D1533fs, D1554fs, D1486fs, D429fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074409:A:AGA
-
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 (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661356.2 |
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
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783628.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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 rs1555581894 ...
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 Oct 08, 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.