Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4655dup (p.Tyr1552Ter)
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.4655dup (p.Tyr1552Ter)
Variation ID: 141960 Accession: VCV000141960.7
- Type and length
-
Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074350-43074351 (GRCh38) [ NCBI UCSC ] 17: 41226367-41226368 (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 Sep 24, 2016 Jun 17, 2024 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4655dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1552Ter nonsense NM_001407571.1:c.4442dup NP_001394500.1:p.Tyr1481Terfs frameshift nonsense NM_001407581.1:c.4721dup NP_001394510.1:p.Tyr1574Terfs frameshift nonsense NM_001407582.1:c.4721dup NP_001394511.1:p.Tyr1574Terfs frameshift nonsense NM_001407583.1:c.4718dup NP_001394512.1:p.Tyr1573Terfs frameshift nonsense NM_001407585.1:c.4718dup NP_001394514.1:p.Tyr1573Terfs frameshift nonsense NM_001407587.1:c.4718dup NP_001394516.1:p.Tyr1573Terfs frameshift nonsense NM_001407590.1:c.4715dup NP_001394519.1:p.Tyr1572Terfs frameshift nonsense NM_001407591.1:c.4715dup NP_001394520.1:p.Tyr1572Terfs frameshift nonsense NM_001407593.1:c.4655dup NP_001394522.1:p.Tyr1552Terfs frameshift nonsense NM_001407594.1:c.4655dup NP_001394523.1:p.Tyr1552Terfs frameshift nonsense NM_001407596.1:c.4655dup NP_001394525.1:p.Tyr1552Terfs frameshift nonsense NM_001407597.1:c.4655dup NP_001394526.1:p.Tyr1552Terfs frameshift nonsense NM_001407598.1:c.4655dup NP_001394527.1:p.Tyr1552Terfs frameshift nonsense NM_001407602.1:c.4655dup NP_001394531.1:p.Tyr1552Terfs frameshift nonsense NM_001407603.1:c.4655dup NP_001394532.1:p.Tyr1552Terfs frameshift nonsense NM_001407605.1:c.4655dup NP_001394534.1:p.Tyr1552Terfs frameshift nonsense NM_001407610.1:c.4652dup NP_001394539.1:p.Tyr1551Terfs frameshift nonsense NM_001407611.1:c.4652dup NP_001394540.1:p.Tyr1551Terfs frameshift nonsense NM_001407612.1:c.4652dup NP_001394541.1:p.Tyr1551Terfs frameshift nonsense NM_001407613.1:c.4652dup NP_001394542.1:p.Tyr1551Terfs frameshift nonsense NM_001407614.1:c.4652dup NP_001394543.1:p.Tyr1551Terfs frameshift nonsense NM_001407615.1:c.4652dup NP_001394544.1:p.Tyr1551Terfs frameshift nonsense NM_001407616.1:c.4652dup NP_001394545.1:p.Tyr1551Terfs frameshift nonsense NM_001407617.1:c.4652dup NP_001394546.1:p.Tyr1551Terfs frameshift nonsense NM_001407618.1:c.4652dup NP_001394547.1:p.Tyr1551Terfs frameshift nonsense NM_001407619.1:c.4652dup NP_001394548.1:p.Tyr1551Terfs frameshift nonsense NM_001407620.1:c.4652dup NP_001394549.1:p.Tyr1551Terfs frameshift nonsense NM_001407621.1:c.4652dup NP_001394550.1:p.Tyr1551Terfs frameshift nonsense NM_001407622.1:c.4652dup NP_001394551.1:p.Tyr1551Terfs frameshift nonsense NM_001407623.1:c.4652dup NP_001394552.1:p.Tyr1551Terfs frameshift nonsense NM_001407624.1:c.4652dup NP_001394553.1:p.Tyr1551Terfs frameshift nonsense NM_001407625.1:c.4652dup NP_001394554.1:p.Tyr1551Terfs frameshift nonsense NM_001407626.1:c.4652dup NP_001394555.1:p.Tyr1551Terfs frameshift nonsense NM_001407627.1:c.4649dup NP_001394556.1:p.Tyr1550Terfs frameshift nonsense NM_001407628.1:c.4649dup NP_001394557.1:p.Tyr1550Terfs frameshift nonsense NM_001407629.1:c.4649dup NP_001394558.1:p.Tyr1550Terfs frameshift nonsense NM_001407630.1:c.4649dup NP_001394559.1:p.Tyr1550Terfs frameshift nonsense NM_001407631.1:c.4649dup NP_001394560.1:p.Tyr1550Terfs frameshift nonsense NM_001407632.1:c.4649dup NP_001394561.1:p.Tyr1550Terfs frameshift nonsense NM_001407633.1:c.4649dup NP_001394562.1:p.Tyr1550Terfs frameshift nonsense NM_001407634.1:c.4649dup NP_001394563.1:p.Tyr1550Terfs frameshift nonsense NM_001407635.1:c.4649dup NP_001394564.1:p.Tyr1550Terfs frameshift nonsense NM_001407636.1:c.4649dup NP_001394565.1:p.Tyr1550Terfs frameshift nonsense NM_001407637.1:c.4649dup NP_001394566.1:p.Tyr1550Terfs frameshift nonsense NM_001407638.1:c.4649dup NP_001394567.1:p.Tyr1550Terfs frameshift nonsense NM_001407639.1:c.4649dup NP_001394568.1:p.Tyr1550Terfs frameshift nonsense NM_001407640.1:c.4649dup NP_001394569.1:p.Tyr1550Terfs frameshift nonsense NM_001407641.1:c.4649dup NP_001394570.1:p.Tyr1550Terfs frameshift nonsense NM_001407642.1:c.4649dup NP_001394571.1:p.Tyr1550Terfs frameshift nonsense NM_001407644.1:c.4646dup NP_001394573.1:p.Tyr1549Terfs frameshift nonsense NM_001407645.1:c.4646dup NP_001394574.1:p.Tyr1549Terfs frameshift nonsense NM_001407646.1:c.4643dup NP_001394575.1:p.Tyr1548Terfs frameshift nonsense NM_001407647.1:c.4640dup NP_001394576.1:p.Tyr1547Terfs frameshift nonsense NM_001407648.1:c.4598dup NP_001394577.1:p.Tyr1533Terfs frameshift nonsense NM_001407649.1:c.4595dup NP_001394578.1:p.Tyr1532Terfs frameshift nonsense NM_001407652.1:c.4655dup NP_001394581.1:p.Tyr1552Terfs frameshift nonsense NM_001407653.1:c.4577dup NP_001394582.1:p.Tyr1526Terfs frameshift nonsense NM_001407654.1:c.4577dup NP_001394583.1:p.Tyr1526Terfs frameshift nonsense NM_001407655.1:c.4577dup NP_001394584.1:p.Tyr1526Terfs frameshift nonsense NM_001407656.1:c.4574dup NP_001394585.1:p.Tyr1525Terfs frameshift nonsense NM_001407657.1:c.4574dup NP_001394586.1:p.Tyr1525Terfs frameshift nonsense NM_001407658.1:c.4574dup NP_001394587.1:p.Tyr1525Terfs frameshift nonsense NM_001407659.1:c.4571dup NP_001394588.1:p.Tyr1524Terfs frameshift nonsense NM_001407660.1:c.4571dup NP_001394589.1:p.Tyr1524Terfs frameshift nonsense NM_001407661.1:c.4571dup NP_001394590.1:p.Tyr1524Terfs frameshift nonsense NM_001407662.1:c.4571dup NP_001394591.1:p.Tyr1524Terfs frameshift nonsense NM_001407663.1:c.4571dup NP_001394592.1:p.Tyr1524Terfs frameshift nonsense NM_001407664.1:c.4532dup NP_001394593.1:p.Tyr1511Terfs frameshift nonsense NM_001407665.1:c.4532dup NP_001394594.1:p.Tyr1511Terfs frameshift nonsense NM_001407666.1:c.4532dup NP_001394595.1:p.Tyr1511Terfs frameshift nonsense NM_001407667.1:c.4532dup NP_001394596.1:p.Tyr1511Terfs frameshift nonsense NM_001407668.1:c.4532dup NP_001394597.1:p.Tyr1511Terfs frameshift nonsense NM_001407669.1:c.4532dup NP_001394598.1:p.Tyr1511Terfs frameshift nonsense NM_001407670.1:c.4529dup NP_001394599.1:p.Tyr1510Terfs frameshift nonsense NM_001407671.1:c.4529dup NP_001394600.1:p.Tyr1510Terfs frameshift nonsense NM_001407672.1:c.4529dup NP_001394601.1:p.Tyr1510Terfs frameshift nonsense NM_001407673.1:c.4529dup NP_001394602.1:p.Tyr1510Terfs frameshift nonsense NM_001407674.1:c.4529dup NP_001394603.1:p.Tyr1510Terfs frameshift nonsense NM_001407675.1:c.4529dup NP_001394604.1:p.Tyr1510Terfs frameshift nonsense NM_001407676.1:c.4529dup NP_001394605.1:p.Tyr1510Terfs frameshift nonsense NM_001407677.1:c.4529dup NP_001394606.1:p.Tyr1510Terfs frameshift nonsense NM_001407678.1:c.4529dup NP_001394607.1:p.Tyr1510Terfs frameshift nonsense NM_001407679.1:c.4529dup NP_001394608.1:p.Tyr1510Terfs frameshift nonsense NM_001407680.1:c.4529dup NP_001394609.1:p.Tyr1510Terfs frameshift nonsense NM_001407681.1:c.4526dup NP_001394610.1:p.Tyr1509Terfs frameshift nonsense NM_001407682.1:c.4526dup NP_001394611.1:p.Tyr1509Terfs frameshift nonsense NM_001407683.1:c.4526dup NP_001394612.1:p.Tyr1509Terfs frameshift nonsense NM_001407684.1:c.4655dup NP_001394613.1:p.Tyr1552Terfs frameshift nonsense NM_001407685.1:c.4526dup NP_001394614.1:p.Tyr1509Terfs frameshift nonsense NM_001407686.1:c.4526dup NP_001394615.1:p.Tyr1509Terfs frameshift nonsense NM_001407687.1:c.4526dup NP_001394616.1:p.Tyr1509Terfs frameshift nonsense NM_001407688.1:c.4526dup NP_001394617.1:p.Tyr1509Terfs frameshift nonsense NM_001407689.1:c.4526dup NP_001394618.1:p.Tyr1509Terfs frameshift nonsense NM_001407690.1:c.4523dup NP_001394619.1:p.Tyr1508Terfs frameshift nonsense NM_001407691.1:c.4523dup NP_001394620.1:p.Tyr1508Terfs frameshift nonsense NM_001407692.1:c.4514dup NP_001394621.1:p.Tyr1505Terfs frameshift nonsense NM_001407694.1:c.4514dup NP_001394623.1:p.Tyr1505Terfs frameshift nonsense NM_001407695.1:c.4514dup NP_001394624.1:p.Tyr1505Terfs frameshift nonsense NM_001407696.1:c.4514dup NP_001394625.1:p.Tyr1505Terfs frameshift nonsense NM_001407697.1:c.4514dup NP_001394626.1:p.Tyr1505Terfs frameshift nonsense NM_001407698.1:c.4514dup NP_001394627.1:p.Tyr1505Terfs frameshift nonsense NM_001407724.1:c.4514dup NP_001394653.1:p.Tyr1505Terfs frameshift nonsense NM_001407725.1:c.4514dup NP_001394654.1:p.Tyr1505Terfs frameshift nonsense NM_001407726.1:c.4514dup NP_001394655.1:p.Tyr1505Terfs frameshift nonsense NM_001407727.1:c.4514dup NP_001394656.1:p.Tyr1505Terfs frameshift nonsense NM_001407728.1:c.4514dup NP_001394657.1:p.Tyr1505Terfs frameshift nonsense NM_001407729.1:c.4514dup NP_001394658.1:p.Tyr1505Terfs frameshift nonsense NM_001407730.1:c.4514dup NP_001394659.1:p.Tyr1505Terfs frameshift nonsense NM_001407731.1:c.4514dup NP_001394660.1:p.Tyr1505Terfs frameshift nonsense NM_001407732.1:c.4511dup NP_001394661.1:p.Tyr1504Terfs frameshift nonsense NM_001407733.1:c.4511dup NP_001394662.1:p.Tyr1504Terfs frameshift nonsense NM_001407734.1:c.4511dup NP_001394663.1:p.Tyr1504Terfs frameshift nonsense NM_001407735.1:c.4511dup NP_001394664.1:p.Tyr1504Terfs frameshift nonsense NM_001407736.1:c.4511dup NP_001394665.1:p.Tyr1504Terfs frameshift nonsense NM_001407737.1:c.4511dup NP_001394666.1:p.Tyr1504Terfs frameshift nonsense NM_001407738.1:c.4511dup NP_001394667.1:p.Tyr1504Terfs frameshift nonsense NM_001407739.1:c.4511dup NP_001394668.1:p.Tyr1504Terfs frameshift nonsense NM_001407740.1:c.4511dup NP_001394669.1:p.Tyr1504Terfs frameshift nonsense NM_001407741.1:c.4511dup NP_001394670.1:p.Tyr1504Terfs frameshift nonsense NM_001407742.1:c.4511dup NP_001394671.1:p.Tyr1504Terfs frameshift nonsense NM_001407743.1:c.4511dup NP_001394672.1:p.Tyr1504Terfs frameshift nonsense NM_001407744.1:c.4511dup NP_001394673.1:p.Tyr1504Terfs frameshift nonsense NM_001407745.1:c.4511dup NP_001394674.1:p.Tyr1504Terfs frameshift nonsense NM_001407746.1:c.4511dup NP_001394675.1:p.Tyr1504Terfs frameshift nonsense NM_001407747.1:c.4511dup NP_001394676.1:p.Tyr1504Terfs frameshift nonsense NM_001407748.1:c.4511dup NP_001394677.1:p.Tyr1504Terfs frameshift nonsense NM_001407749.1:c.4511dup NP_001394678.1:p.Tyr1504Terfs frameshift nonsense NM_001407750.1:c.4511dup NP_001394679.1:p.Tyr1504Terfs frameshift nonsense NM_001407751.1:c.4511dup NP_001394680.1:p.Tyr1504Terfs frameshift nonsense NM_001407752.1:c.4511dup NP_001394681.1:p.Tyr1504Terfs frameshift nonsense NM_001407838.1:c.4508dup NP_001394767.1:p.Tyr1503Terfs frameshift nonsense NM_001407839.1:c.4508dup NP_001394768.1:p.Tyr1503Terfs frameshift nonsense NM_001407841.1:c.4508dup NP_001394770.1:p.Tyr1503Terfs frameshift nonsense NM_001407842.1:c.4508dup NP_001394771.1:p.Tyr1503Terfs frameshift nonsense NM_001407843.1:c.4508dup NP_001394772.1:p.Tyr1503Terfs frameshift nonsense NM_001407844.1:c.4508dup NP_001394773.1:p.Tyr1503Terfs frameshift nonsense NM_001407845.1:c.4508dup NP_001394774.1:p.Tyr1503Terfs frameshift nonsense NM_001407846.1:c.4508dup NP_001394775.1:p.Tyr1503Terfs frameshift nonsense NM_001407847.1:c.4508dup NP_001394776.1:p.Tyr1503Terfs frameshift nonsense NM_001407848.1:c.4508dup NP_001394777.1:p.Tyr1503Terfs frameshift nonsense NM_001407849.1:c.4508dup NP_001394778.1:p.Tyr1503Terfs frameshift nonsense NM_001407850.1:c.4508dup NP_001394779.1:p.Tyr1503Terfs frameshift nonsense NM_001407851.1:c.4508dup NP_001394780.1:p.Tyr1503Terfs frameshift nonsense NM_001407852.1:c.4508dup NP_001394781.1:p.Tyr1503Terfs frameshift nonsense NM_001407853.1:c.4508dup NP_001394782.1:p.Tyr1503Terfs frameshift nonsense NM_001407854.1:c.4655dup NP_001394783.1:p.Tyr1552Terfs frameshift nonsense NM_001407858.1:c.4652dup NP_001394787.1:p.Tyr1551Terfs frameshift nonsense NM_001407859.1:c.4652dup NP_001394788.1:p.Tyr1551Terfs frameshift nonsense NM_001407860.1:c.4652dup NP_001394789.1:p.Tyr1551Terfs frameshift nonsense NM_001407861.1:c.4649dup NP_001394790.1:p.Tyr1550Terfs frameshift nonsense NM_001407862.1:c.4454dup NP_001394791.1:p.Tyr1485Terfs frameshift nonsense NM_001407863.1:c.4529dup NP_001394792.1:p.Tyr1510Terfs frameshift nonsense NM_001407874.1:c.4448dup NP_001394803.1:p.Tyr1483Terfs frameshift nonsense NM_001407875.1:c.4448dup NP_001394804.1:p.Tyr1483Terfs frameshift nonsense NM_001407879.1:c.4445dup NP_001394808.1:p.Tyr1482Terfs frameshift nonsense NM_001407881.1:c.4445dup NP_001394810.1:p.Tyr1482Terfs frameshift nonsense NM_001407882.1:c.4445dup NP_001394811.1:p.Tyr1482Terfs frameshift nonsense NM_001407884.1:c.4445dup NP_001394813.1:p.Tyr1482Terfs frameshift nonsense NM_001407885.1:c.4445dup NP_001394814.1:p.Tyr1482Terfs frameshift nonsense NM_001407886.1:c.4445dup NP_001394815.1:p.Tyr1482Terfs frameshift nonsense NM_001407887.1:c.4445dup NP_001394816.1:p.Tyr1482Terfs frameshift nonsense NM_001407889.1:c.4445dup NP_001394818.1:p.Tyr1482Terfs frameshift nonsense NM_001407894.1:c.4442dup NP_001394823.1:p.Tyr1481Terfs frameshift nonsense NM_001407895.1:c.4442dup NP_001394824.1:p.Tyr1481Terfs frameshift nonsense NM_001407896.1:c.4442dup NP_001394825.1:p.Tyr1481Terfs frameshift nonsense NM_001407897.1:c.4442dup NP_001394826.1:p.Tyr1481Terfs frameshift nonsense NM_001407898.1:c.4442dup NP_001394827.1:p.Tyr1481Terfs frameshift nonsense NM_001407899.1:c.4442dup NP_001394828.1:p.Tyr1481Terfs frameshift nonsense NM_001407900.1:c.4442dup NP_001394829.1:p.Tyr1481Terfs frameshift nonsense NM_001407902.1:c.4442dup NP_001394831.1:p.Tyr1481Terfs frameshift nonsense NM_001407904.1:c.4442dup NP_001394833.1:p.Tyr1481Terfs frameshift nonsense NM_001407906.1:c.4442dup NP_001394835.1:p.Tyr1481Terfs frameshift nonsense NM_001407907.1:c.4442dup NP_001394836.1:p.Tyr1481Terfs frameshift nonsense NM_001407908.1:c.4442dup NP_001394837.1:p.Tyr1481Terfs frameshift nonsense NM_001407909.1:c.4442dup NP_001394838.1:p.Tyr1481Terfs frameshift nonsense NM_001407910.1:c.4442dup NP_001394839.1:p.Tyr1481Terfs frameshift nonsense NM_001407915.1:c.4439dup NP_001394844.1:p.Tyr1480Terfs frameshift nonsense NM_001407916.1:c.4439dup NP_001394845.1:p.Tyr1480Terfs frameshift nonsense NM_001407917.1:c.4439dup NP_001394846.1:p.Tyr1480Terfs frameshift nonsense NM_001407918.1:c.4439dup NP_001394847.1:p.Tyr1480Terfs frameshift nonsense NM_001407919.1:c.4532dup NP_001394848.1:p.Tyr1511Terfs frameshift nonsense NM_001407920.1:c.4391dup NP_001394849.1:p.Tyr1464Terfs frameshift nonsense NM_001407921.1:c.4391dup NP_001394850.1:p.Tyr1464Terfs frameshift nonsense NM_001407922.1:c.4391dup NP_001394851.1:p.Tyr1464Terfs frameshift nonsense NM_001407923.1:c.4391dup NP_001394852.1:p.Tyr1464Terfs frameshift nonsense NM_001407924.1:c.4391dup NP_001394853.1:p.Tyr1464Terfs frameshift nonsense NM_001407925.1:c.4391dup NP_001394854.1:p.Tyr1464Terfs frameshift nonsense NM_001407926.1:c.4391dup NP_001394855.1:p.Tyr1464Terfs frameshift nonsense NM_001407927.1:c.4388dup NP_001394856.1:p.Tyr1463Terfs frameshift nonsense NM_001407928.1:c.4388dup NP_001394857.1:p.Tyr1463Terfs frameshift nonsense NM_001407929.1:c.4388dup NP_001394858.1:p.Tyr1463Terfs frameshift nonsense NM_001407930.1:c.4388dup NP_001394859.1:p.Tyr1463Terfs frameshift nonsense NM_001407931.1:c.4388dup NP_001394860.1:p.Tyr1463Terfs frameshift nonsense NM_001407932.1:c.4388dup NP_001394861.1:p.Tyr1463Terfs frameshift nonsense NM_001407933.1:c.4388dup NP_001394862.1:p.Tyr1463Terfs frameshift nonsense NM_001407934.1:c.4385dup NP_001394863.1:p.Tyr1462Terfs frameshift nonsense NM_001407935.1:c.4385dup NP_001394864.1:p.Tyr1462Terfs frameshift nonsense NM_001407936.1:c.4385dup NP_001394865.1:p.Tyr1462Terfs frameshift nonsense NM_001407937.1:c.4532dup NP_001394866.1:p.Tyr1511Terfs frameshift nonsense NM_001407938.1:c.4532dup NP_001394867.1:p.Tyr1511Terfs frameshift nonsense NM_001407939.1:c.4529dup NP_001394868.1:p.Tyr1510Terfs frameshift nonsense NM_001407940.1:c.4529dup NP_001394869.1:p.Tyr1510Terfs frameshift nonsense NM_001407941.1:c.4526dup NP_001394870.1:p.Tyr1509Terfs frameshift nonsense NM_001407942.1:c.4514dup NP_001394871.1:p.Tyr1505Terfs frameshift nonsense NM_001407943.1:c.4511dup NP_001394872.1:p.Tyr1504Terfs frameshift nonsense NM_001407944.1:c.4511dup NP_001394873.1:p.Tyr1504Terfs frameshift nonsense NM_001407945.1:c.4511dup NP_001394874.1:p.Tyr1504Terfs frameshift nonsense NM_001407946.1:c.4322dup NP_001394875.1:p.Tyr1441Terfs frameshift nonsense NM_001407947.1:c.4322dup NP_001394876.1:p.Tyr1441Terfs frameshift nonsense NM_001407948.1:c.4322dup NP_001394877.1:p.Tyr1441Terfs frameshift nonsense NM_001407949.1:c.4322dup NP_001394878.1:p.Tyr1441Terfs frameshift nonsense NM_001407950.1:c.4319dup NP_001394879.1:p.Tyr1440Terfs frameshift nonsense NM_001407951.1:c.4319dup NP_001394880.1:p.Tyr1440Terfs frameshift nonsense NM_001407952.1:c.4319dup NP_001394881.1:p.Tyr1440Terfs frameshift nonsense NM_001407953.1:c.4319dup NP_001394882.1:p.Tyr1440Terfs frameshift nonsense NM_001407954.1:c.4319dup NP_001394883.1:p.Tyr1440Terfs frameshift nonsense NM_001407955.1:c.4319dup NP_001394884.1:p.Tyr1440Terfs frameshift nonsense NM_001407956.1:c.4316dup NP_001394885.1:p.Tyr1439Terfs frameshift nonsense NM_001407957.1:c.4316dup NP_001394886.1:p.Tyr1439Terfs frameshift nonsense NM_001407958.1:c.4316dup NP_001394887.1:p.Tyr1439Terfs frameshift nonsense NM_001407959.1:c.4274dup NP_001394888.1:p.Tyr1425Terfs frameshift nonsense NM_001407960.1:c.4271dup NP_001394889.1:p.Tyr1424Terfs frameshift nonsense NM_001407962.1:c.4271dup NP_001394891.1:p.Tyr1424Terfs frameshift nonsense NM_001407963.1:c.4268dup NP_001394892.1:p.Tyr1423Terfs frameshift nonsense NM_001407965.1:c.4148dup NP_001394894.1:p.Tyr1383Terfs frameshift nonsense NM_001407966.1:c.3767dup NP_001394895.1:p.Tyr1256Terfs frameshift nonsense NM_001407967.1:c.3764dup NP_001394896.1:p.Tyr1255Terfs frameshift nonsense NM_001407968.1:c.2051dup NP_001394897.1:p.Tyr684Terfs frameshift nonsense NM_001407969.1:c.2048dup NP_001394898.1:p.Tyr683Terfs frameshift nonsense NM_001407970.1:c.1412dup NP_001394899.1:p.Tyr471Terfs frameshift nonsense NM_001407971.1:c.1412dup NP_001394900.1:p.Tyr471Terfs frameshift nonsense NM_001407972.1:c.1409dup NP_001394901.1:p.Tyr470Terfs frameshift nonsense NM_001407973.1:c.1346dup NP_001394902.1:p.Tyr449Terfs frameshift nonsense NM_001407974.1:c.1346dup NP_001394903.1:p.Tyr449Terfs frameshift nonsense NM_001407975.1:c.1346dup NP_001394904.1:p.Tyr449Terfs frameshift nonsense NM_001407976.1:c.1346dup NP_001394905.1:p.Tyr449Terfs frameshift nonsense NM_001407977.1:c.1346dup NP_001394906.1:p.Tyr449Terfs frameshift nonsense NM_001407978.1:c.1346dup NP_001394907.1:p.Tyr449Terfs frameshift nonsense NM_001407979.1:c.1343dup NP_001394908.1:p.Tyr448Terfs frameshift nonsense NM_001407980.1:c.1343dup NP_001394909.1:p.Tyr448Terfs frameshift nonsense NM_001407981.1:c.1343dup NP_001394910.1:p.Tyr448Terfs frameshift nonsense NM_001407982.1:c.1343dup NP_001394911.1:p.Tyr448Terfs frameshift nonsense NM_001407983.1:c.1343dup NP_001394912.1:p.Tyr448Terfs frameshift nonsense NM_001407984.1:c.1343dup NP_001394913.1:p.Tyr448Terfs frameshift nonsense NM_001407985.1:c.1343dup NP_001394914.1:p.Tyr448Terfs frameshift nonsense NM_001407986.1:c.1343dup NP_001394915.1:p.Tyr448Terfs frameshift nonsense NM_001407990.1:c.1343dup NP_001394919.1:p.Tyr448Terfs frameshift nonsense NM_001407991.1:c.1343dup NP_001394920.1:p.Tyr448Terfs frameshift nonsense NM_001407992.1:c.1343dup NP_001394921.1:p.Tyr448Terfs frameshift nonsense NM_001407993.1:c.1343dup NP_001394922.1:p.Tyr448Terfs frameshift nonsense NM_001408392.1:c.1340dup NP_001395321.1:p.Tyr447Terfs frameshift nonsense NM_001408396.1:c.1340dup NP_001395325.1:p.Tyr447Terfs frameshift nonsense NM_001408397.1:c.1340dup NP_001395326.1:p.Tyr447Terfs frameshift nonsense NM_001408398.1:c.1340dup NP_001395327.1:p.Tyr447Terfs frameshift nonsense NM_001408399.1:c.1340dup NP_001395328.1:p.Tyr447Terfs frameshift nonsense NM_001408400.1:c.1340dup NP_001395329.1:p.Tyr447Terfs frameshift nonsense NM_001408401.1:c.1340dup NP_001395330.1:p.Tyr447Terfs frameshift nonsense NM_001408402.1:c.1340dup NP_001395331.1:p.Tyr447Terfs frameshift nonsense NM_001408403.1:c.1340dup NP_001395332.1:p.Tyr447Terfs frameshift nonsense NM_001408404.1:c.1340dup NP_001395333.1:p.Tyr447Terfs frameshift nonsense NM_001408406.1:c.1337dup NP_001395335.1:p.Tyr446Terfs frameshift nonsense NM_001408407.1:c.1337dup NP_001395336.1:p.Tyr446Terfs frameshift nonsense NM_001408408.1:c.1337dup NP_001395337.1:p.Tyr446Terfs frameshift nonsense NM_001408409.1:c.1334dup NP_001395338.1:p.Tyr445Terfs frameshift nonsense NM_001408410.1:c.1271dup NP_001395339.1:p.Tyr424Terfs frameshift nonsense NM_001408411.1:c.1268dup NP_001395340.1:p.Tyr423Terfs frameshift nonsense NM_001408412.1:c.1265dup NP_001395341.1:p.Tyr422Terfs frameshift nonsense NM_001408413.1:c.1265dup NP_001395342.1:p.Tyr422Terfs frameshift nonsense NM_001408414.1:c.1265dup NP_001395343.1:p.Tyr422Terfs frameshift nonsense NM_001408415.1:c.1265dup NP_001395344.1:p.Tyr422Terfs frameshift nonsense NM_001408416.1:c.1265dup NP_001395345.1:p.Tyr422Terfs frameshift nonsense NM_001408418.1:c.1229dup NP_001395347.1:p.Tyr410Terfs frameshift nonsense NM_001408419.1:c.1229dup NP_001395348.1:p.Tyr410Terfs frameshift nonsense NM_001408420.1:c.1229dup NP_001395349.1:p.Tyr410Terfs frameshift nonsense NM_001408421.1:c.1226dup NP_001395350.1:p.Tyr409Terfs frameshift nonsense NM_001408422.1:c.1226dup NP_001395351.1:p.Tyr409Terfs frameshift nonsense NM_001408423.1:c.1226dup NP_001395352.1:p.Tyr409Terfs frameshift nonsense NM_001408424.1:c.1226dup NP_001395353.1:p.Tyr409Terfs frameshift nonsense NM_001408425.1:c.1223dup NP_001395354.1:p.Tyr408Terfs frameshift nonsense NM_001408426.1:c.1223dup NP_001395355.1:p.Tyr408Terfs frameshift nonsense NM_001408427.1:c.1223dup NP_001395356.1:p.Tyr408Terfs frameshift nonsense NM_001408428.1:c.1223dup NP_001395357.1:p.Tyr408Terfs frameshift nonsense NM_001408429.1:c.1223dup NP_001395358.1:p.Tyr408Terfs frameshift nonsense NM_001408430.1:c.1223dup NP_001395359.1:p.Tyr408Terfs frameshift nonsense NM_001408431.1:c.1223dup NP_001395360.1:p.Tyr408Terfs frameshift nonsense NM_001408432.1:c.1220dup NP_001395361.1:p.Tyr407Terfs frameshift nonsense NM_001408433.1:c.1220dup NP_001395362.1:p.Tyr407Terfs frameshift nonsense NM_001408434.1:c.1220dup NP_001395363.1:p.Tyr407Terfs frameshift nonsense NM_001408435.1:c.1220dup NP_001395364.1:p.Tyr407Terfs frameshift nonsense NM_001408436.1:c.1220dup NP_001395365.1:p.Tyr407Terfs frameshift nonsense NM_001408437.1:c.1220dup NP_001395366.1:p.Tyr407Terfs frameshift nonsense NM_001408438.1:c.1220dup NP_001395367.1:p.Tyr407Terfs frameshift nonsense NM_001408439.1:c.1220dup NP_001395368.1:p.Tyr407Terfs frameshift nonsense NM_001408440.1:c.1220dup NP_001395369.1:p.Tyr407Terfs frameshift nonsense NM_001408441.1:c.1220dup NP_001395370.1:p.Tyr407Terfs frameshift nonsense NM_001408442.1:c.1220dup NP_001395371.1:p.Tyr407Terfs frameshift nonsense NM_001408443.1:c.1220dup NP_001395372.1:p.Tyr407Terfs frameshift nonsense NM_001408444.1:c.1220dup NP_001395373.1:p.Tyr407Terfs frameshift nonsense NM_001408445.1:c.1217dup NP_001395374.1:p.Tyr406Terfs frameshift nonsense NM_001408446.1:c.1217dup NP_001395375.1:p.Tyr406Terfs frameshift nonsense NM_001408447.1:c.1217dup NP_001395376.1:p.Tyr406Terfs frameshift nonsense NM_001408448.1:c.1217dup NP_001395377.1:p.Tyr406Terfs frameshift nonsense NM_001408450.1:c.1217dup NP_001395379.1:p.Tyr406Terfs frameshift nonsense NM_001408451.1:c.1211dup NP_001395380.1:p.Tyr404Terfs frameshift nonsense NM_001408452.1:c.1205dup NP_001395381.1:p.Tyr402Terfs frameshift nonsense NM_001408453.1:c.1205dup NP_001395382.1:p.Tyr402Terfs frameshift nonsense NM_001408454.1:c.1205dup NP_001395383.1:p.Tyr402Terfs frameshift nonsense NM_001408455.1:c.1205dup NP_001395384.1:p.Tyr402Terfs frameshift nonsense NM_001408456.1:c.1205dup NP_001395385.1:p.Tyr402Terfs frameshift nonsense NM_001408457.1:c.1205dup NP_001395386.1:p.Tyr402Terfs frameshift nonsense NM_001408458.1:c.1202dup NP_001395387.1:p.Tyr401Terfs frameshift nonsense NM_001408459.1:c.1202dup NP_001395388.1:p.Tyr401Terfs frameshift nonsense NM_001408460.1:c.1202dup NP_001395389.1:p.Tyr401Terfs frameshift nonsense NM_001408461.1:c.1202dup NP_001395390.1:p.Tyr401Terfs frameshift nonsense NM_001408462.1:c.1202dup NP_001395391.1:p.Tyr401Terfs frameshift nonsense NM_001408463.1:c.1202dup NP_001395392.1:p.Tyr401Terfs frameshift nonsense NM_001408464.1:c.1202dup NP_001395393.1:p.Tyr401Terfs frameshift nonsense NM_001408465.1:c.1202dup NP_001395394.1:p.Tyr401Terfs frameshift nonsense NM_001408466.1:c.1202dup NP_001395395.1:p.Tyr401Terfs frameshift nonsense NM_001408467.1:c.1202dup NP_001395396.1:p.Tyr401Terfs frameshift nonsense NM_001408468.1:c.1199dup NP_001395397.1:p.Tyr400Terfs frameshift nonsense NM_001408469.1:c.1199dup NP_001395398.1:p.Tyr400Terfs frameshift nonsense NM_001408470.1:c.1199dup NP_001395399.1:p.Tyr400Terfs frameshift nonsense NM_001408472.1:c.1343dup NP_001395401.1:p.Tyr448Terfs frameshift nonsense NM_001408473.1:c.1340dup NP_001395402.1:p.Tyr447Terfs frameshift nonsense NM_001408474.1:c.1145dup NP_001395403.1:p.Tyr382Terfs frameshift nonsense NM_001408475.1:c.1142dup NP_001395404.1:p.Tyr381Terfs frameshift nonsense NM_001408476.1:c.1142dup NP_001395405.1:p.Tyr381Terfs frameshift nonsense NM_001408478.1:c.1136dup NP_001395407.1:p.Tyr379Terfs frameshift nonsense NM_001408479.1:c.1136dup NP_001395408.1:p.Tyr379Terfs frameshift nonsense NM_001408480.1:c.1136dup NP_001395409.1:p.Tyr379Terfs frameshift nonsense NM_001408481.1:c.1133dup NP_001395410.1:p.Tyr378Terfs frameshift nonsense NM_001408482.1:c.1133dup NP_001395411.1:p.Tyr378Terfs frameshift nonsense NM_001408483.1:c.1133dup NP_001395412.1:p.Tyr378Terfs frameshift nonsense NM_001408484.1:c.1133dup NP_001395413.1:p.Tyr378Terfs frameshift nonsense NM_001408485.1:c.1133dup NP_001395414.1:p.Tyr378Terfs frameshift nonsense NM_001408489.1:c.1133dup NP_001395418.1:p.Tyr378Terfs frameshift nonsense NM_001408490.1:c.1133dup NP_001395419.1:p.Tyr378Terfs frameshift nonsense NM_001408491.1:c.1133dup NP_001395420.1:p.Tyr378Terfs frameshift nonsense NM_001408492.1:c.1130dup NP_001395421.1:p.Tyr377Terfs frameshift nonsense NM_001408493.1:c.1130dup NP_001395422.1:p.Tyr377Terfs frameshift nonsense NM_001408494.1:c.1106dup NP_001395423.1:p.Tyr369Terfs frameshift nonsense NM_001408495.1:c.1100dup NP_001395424.1:p.Tyr367Terfs frameshift nonsense NM_001408496.1:c.1082dup NP_001395425.1:p.Tyr361Terfs frameshift nonsense NM_001408497.1:c.1082dup NP_001395426.1:p.Tyr361Terfs frameshift nonsense NM_001408498.1:c.1082dup NP_001395427.1:p.Tyr361Terfs frameshift nonsense NM_001408499.1:c.1082dup NP_001395428.1:p.Tyr361Terfs frameshift nonsense NM_001408500.1:c.1082dup NP_001395429.1:p.Tyr361Terfs frameshift nonsense NM_001408501.1:c.1082dup NP_001395430.1:p.Tyr361Terfs frameshift nonsense NM_001408502.1:c.1079dup NP_001395431.1:p.Tyr360Terfs frameshift nonsense NM_001408503.1:c.1079dup NP_001395432.1:p.Tyr360Terfs frameshift nonsense NM_001408504.1:c.1079dup NP_001395433.1:p.Tyr360Terfs frameshift nonsense NM_001408505.1:c.1076dup NP_001395434.1:p.Tyr359Terfs frameshift nonsense NM_001408506.1:c.1019dup NP_001395435.1:p.Tyr340Terfs frameshift nonsense NM_001408507.1:c.1016dup NP_001395436.1:p.Tyr339Terfs frameshift nonsense NM_001408508.1:c.1007dup NP_001395437.1:p.Tyr336Terfs frameshift nonsense NM_001408509.1:c.1004dup NP_001395438.1:p.Tyr335Terfs frameshift nonsense NM_001408510.1:c.965dup NP_001395439.1:p.Tyr322Terfs frameshift nonsense NM_001408511.1:c.962dup NP_001395440.1:p.Tyr321Terfs frameshift nonsense NM_001408512.1:c.842dup NP_001395441.1:p.Tyr281Terfs frameshift nonsense NM_007294.3:c.4655dupA frameshift nonsense NM_007297.4:c.4514dup NP_009228.2:p.Tyr1505Ter nonsense NM_007298.4:c.1343dup NP_009229.2:p.Tyr448Terfs frameshift nonsense NM_007299.4:c.1343dup NP_009230.2:p.Tyr448Ter nonsense NM_007300.4:c.4718dup NP_009231.2:p.Tyr1573Ter nonsense NM_007304.2:c.1343dup NP_009235.2:p.Tyr448Terfs frameshift nonsense NR_027676.2:n.4832dup non-coding transcript variant NC_000017.11:g.43074351dup NC_000017.10:g.41226368dup NG_005905.2:g.143633dup LRG_292:g.143633dup LRG_292t1:c.4655dup LRG_292p1:p.Tyr1552Terfs - Protein change
- Y1505*, Y1552*, Y448*, Y1573*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074350:T:TT
-
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
|
Mar 18, 2016 | RCV000130701.11 | |
| Pathogenic (2) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000241450.11 |
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: SCV000300149.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Mar 18, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000185588.6
First in ClinVar: Aug 06, 2014 Last updated: Sep 24, 2016 |
Comment:
The c.4655dupA pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from a duplication of A at nucleotide position 4655, causing a … (more)
The c.4655dupA pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from a duplication of A at nucleotide position 4655, 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
(Dec 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV005058299.1
First in ClinVar: Jun 17, 2024 Last updated: Jun 17, 2024 |
|
Comment:
Comment:
The c.4655dupA pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from a duplication of A at nucleotide position 4655, 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).
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:
The c.4655dupA pathogenic mutation, located in coding exon 13 of the BRCA1 gene, results from a duplication of A at nucleotide position 4655, 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).
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 rs587782143 ...
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 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.