Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4688dup (p.Tyr1563Ter)
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.4688dup (p.Tyr1563Ter)
Variation ID: 266490 Accession: VCV000266490.13
- Type and length
-
Duplication, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43071225-43071226 (GRCh38) [ NCBI UCSC ] 17: 41223242-41223243 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4688dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1563Ter nonsense NM_001407571.1:c.4475dup NP_001394500.1:p.Tyr1492Terfs frameshift nonsense NM_001407581.1:c.4754dup NP_001394510.1:p.Tyr1585Terfs frameshift nonsense NM_001407582.1:c.4754dup NP_001394511.1:p.Tyr1585Terfs frameshift nonsense NM_001407583.1:c.4751dup NP_001394512.1:p.Tyr1584Terfs frameshift nonsense NM_001407585.1:c.4751dup NP_001394514.1:p.Tyr1584Terfs frameshift nonsense NM_001407587.1:c.4751dup NP_001394516.1:p.Tyr1584Terfs frameshift nonsense NM_001407590.1:c.4748dup NP_001394519.1:p.Tyr1583Terfs frameshift nonsense NM_001407591.1:c.4748dup NP_001394520.1:p.Tyr1583Terfs frameshift nonsense NM_001407593.1:c.4688dup NP_001394522.1:p.Tyr1563Terfs frameshift nonsense NM_001407594.1:c.4688dup NP_001394523.1:p.Tyr1563Terfs frameshift nonsense NM_001407596.1:c.4688dup NP_001394525.1:p.Tyr1563Terfs frameshift nonsense NM_001407597.1:c.4688dup NP_001394526.1:p.Tyr1563Terfs frameshift nonsense NM_001407598.1:c.4688dup NP_001394527.1:p.Tyr1563Terfs frameshift nonsense NM_001407602.1:c.4688dup NP_001394531.1:p.Tyr1563Terfs frameshift nonsense NM_001407603.1:c.4688dup NP_001394532.1:p.Tyr1563Terfs frameshift nonsense NM_001407605.1:c.4688dup NP_001394534.1:p.Tyr1563Terfs frameshift nonsense NM_001407610.1:c.4685dup NP_001394539.1:p.Tyr1562Terfs frameshift nonsense NM_001407611.1:c.4685dup NP_001394540.1:p.Tyr1562Terfs frameshift nonsense NM_001407612.1:c.4685dup NP_001394541.1:p.Tyr1562Terfs frameshift nonsense NM_001407613.1:c.4685dup NP_001394542.1:p.Tyr1562Terfs frameshift nonsense NM_001407614.1:c.4685dup NP_001394543.1:p.Tyr1562Terfs frameshift nonsense NM_001407615.1:c.4685dup NP_001394544.1:p.Tyr1562Terfs frameshift nonsense NM_001407616.1:c.4685dup NP_001394545.1:p.Tyr1562Terfs frameshift nonsense NM_001407617.1:c.4685dup NP_001394546.1:p.Tyr1562Terfs frameshift nonsense NM_001407618.1:c.4685dup NP_001394547.1:p.Tyr1562Terfs frameshift nonsense NM_001407619.1:c.4685dup NP_001394548.1:p.Tyr1562Terfs frameshift nonsense NM_001407620.1:c.4685dup NP_001394549.1:p.Tyr1562Terfs frameshift nonsense NM_001407621.1:c.4685dup NP_001394550.1:p.Tyr1562Terfs frameshift nonsense NM_001407622.1:c.4685dup NP_001394551.1:p.Tyr1562Terfs frameshift nonsense NM_001407623.1:c.4685dup NP_001394552.1:p.Tyr1562Terfs frameshift nonsense NM_001407624.1:c.4685dup NP_001394553.1:p.Tyr1562Terfs frameshift nonsense NM_001407625.1:c.4685dup NP_001394554.1:p.Tyr1562Terfs frameshift nonsense NM_001407626.1:c.4685dup NP_001394555.1:p.Tyr1562Terfs frameshift nonsense NM_001407627.1:c.4682dup NP_001394556.1:p.Tyr1561Terfs frameshift nonsense NM_001407628.1:c.4682dup NP_001394557.1:p.Tyr1561Terfs frameshift nonsense NM_001407629.1:c.4682dup NP_001394558.1:p.Tyr1561Terfs frameshift nonsense NM_001407630.1:c.4682dup NP_001394559.1:p.Tyr1561Terfs frameshift nonsense NM_001407631.1:c.4682dup NP_001394560.1:p.Tyr1561Terfs frameshift nonsense NM_001407632.1:c.4682dup NP_001394561.1:p.Tyr1561Terfs frameshift nonsense NM_001407633.1:c.4682dup NP_001394562.1:p.Tyr1561Terfs frameshift nonsense NM_001407634.1:c.4682dup NP_001394563.1:p.Tyr1561Terfs frameshift nonsense NM_001407635.1:c.4682dup NP_001394564.1:p.Tyr1561Terfs frameshift nonsense NM_001407636.1:c.4682dup NP_001394565.1:p.Tyr1561Terfs frameshift nonsense NM_001407637.1:c.4682dup NP_001394566.1:p.Tyr1561Terfs frameshift nonsense NM_001407638.1:c.4682dup NP_001394567.1:p.Tyr1561Terfs frameshift nonsense NM_001407639.1:c.4682dup NP_001394568.1:p.Tyr1561Terfs frameshift nonsense NM_001407640.1:c.4682dup NP_001394569.1:p.Tyr1561Terfs frameshift nonsense NM_001407641.1:c.4682dup NP_001394570.1:p.Tyr1561Terfs frameshift nonsense NM_001407642.1:c.4682dup NP_001394571.1:p.Tyr1561Terfs frameshift nonsense NM_001407644.1:c.4679dup NP_001394573.1:p.Tyr1560Terfs frameshift nonsense NM_001407645.1:c.4679dup NP_001394574.1:p.Tyr1560Terfs frameshift nonsense NM_001407646.1:c.4676dup NP_001394575.1:p.Tyr1559Terfs frameshift nonsense NM_001407647.1:c.4673dup NP_001394576.1:p.Tyr1558Terfs frameshift nonsense NM_001407648.1:c.4631dup NP_001394577.1:p.Tyr1544Terfs frameshift nonsense NM_001407649.1:c.4628dup NP_001394578.1:p.Tyr1543Terfs frameshift nonsense NM_001407652.1:c.4688dup NP_001394581.1:p.Tyr1563Terfs frameshift nonsense NM_001407653.1:c.4610dup NP_001394582.1:p.Tyr1537Terfs frameshift nonsense NM_001407654.1:c.4610dup NP_001394583.1:p.Tyr1537Terfs frameshift nonsense NM_001407655.1:c.4610dup NP_001394584.1:p.Tyr1537Terfs frameshift nonsense NM_001407656.1:c.4607dup NP_001394585.1:p.Tyr1536Terfs frameshift nonsense NM_001407657.1:c.4607dup NP_001394586.1:p.Tyr1536Terfs frameshift nonsense NM_001407658.1:c.4607dup NP_001394587.1:p.Tyr1536Terfs frameshift nonsense NM_001407659.1:c.4604dup NP_001394588.1:p.Tyr1535Terfs frameshift nonsense NM_001407660.1:c.4604dup NP_001394589.1:p.Tyr1535Terfs frameshift nonsense NM_001407661.1:c.4604dup NP_001394590.1:p.Tyr1535Terfs frameshift nonsense NM_001407662.1:c.4604dup NP_001394591.1:p.Tyr1535Terfs frameshift nonsense NM_001407663.1:c.4604dup NP_001394592.1:p.Tyr1535Terfs frameshift nonsense NM_001407664.1:c.4565dup NP_001394593.1:p.Tyr1522Terfs frameshift nonsense NM_001407665.1:c.4565dup NP_001394594.1:p.Tyr1522Terfs frameshift nonsense NM_001407666.1:c.4565dup NP_001394595.1:p.Tyr1522Terfs frameshift nonsense NM_001407667.1:c.4565dup NP_001394596.1:p.Tyr1522Terfs frameshift nonsense NM_001407668.1:c.4565dup NP_001394597.1:p.Tyr1522Terfs frameshift nonsense NM_001407669.1:c.4565dup NP_001394598.1:p.Tyr1522Terfs frameshift nonsense NM_001407670.1:c.4562dup NP_001394599.1:p.Tyr1521Terfs frameshift nonsense NM_001407671.1:c.4562dup NP_001394600.1:p.Tyr1521Terfs frameshift nonsense NM_001407672.1:c.4562dup NP_001394601.1:p.Tyr1521Terfs frameshift nonsense NM_001407673.1:c.4562dup NP_001394602.1:p.Tyr1521Terfs frameshift nonsense NM_001407674.1:c.4562dup NP_001394603.1:p.Tyr1521Terfs frameshift nonsense NM_001407675.1:c.4562dup NP_001394604.1:p.Tyr1521Terfs frameshift nonsense NM_001407676.1:c.4562dup NP_001394605.1:p.Tyr1521Terfs frameshift nonsense NM_001407677.1:c.4562dup NP_001394606.1:p.Tyr1521Terfs frameshift nonsense NM_001407678.1:c.4562dup NP_001394607.1:p.Tyr1521Terfs frameshift nonsense NM_001407679.1:c.4562dup NP_001394608.1:p.Tyr1521Terfs frameshift nonsense NM_001407680.1:c.4562dup NP_001394609.1:p.Tyr1521Terfs frameshift nonsense NM_001407681.1:c.4559dup NP_001394610.1:p.Tyr1520Terfs frameshift nonsense NM_001407682.1:c.4559dup NP_001394611.1:p.Tyr1520Terfs frameshift nonsense NM_001407683.1:c.4559dup NP_001394612.1:p.Tyr1520Terfs frameshift nonsense NM_001407684.1:c.4688dup NP_001394613.1:p.Tyr1563Terfs frameshift nonsense NM_001407685.1:c.4559dup NP_001394614.1:p.Tyr1520Terfs frameshift nonsense NM_001407686.1:c.4559dup NP_001394615.1:p.Tyr1520Terfs frameshift nonsense NM_001407687.1:c.4559dup NP_001394616.1:p.Tyr1520Terfs frameshift nonsense NM_001407688.1:c.4559dup NP_001394617.1:p.Tyr1520Terfs frameshift nonsense NM_001407689.1:c.4559dup NP_001394618.1:p.Tyr1520Terfs frameshift nonsense NM_001407690.1:c.4556dup NP_001394619.1:p.Tyr1519Terfs frameshift nonsense NM_001407691.1:c.4556dup NP_001394620.1:p.Tyr1519Terfs frameshift nonsense NM_001407692.1:c.4547dup NP_001394621.1:p.Tyr1516Terfs frameshift nonsense NM_001407694.1:c.4547dup NP_001394623.1:p.Tyr1516Terfs frameshift nonsense NM_001407695.1:c.4547dup NP_001394624.1:p.Tyr1516Terfs frameshift nonsense NM_001407696.1:c.4547dup NP_001394625.1:p.Tyr1516Terfs frameshift nonsense NM_001407697.1:c.4547dup NP_001394626.1:p.Tyr1516Terfs frameshift nonsense NM_001407698.1:c.4547dup NP_001394627.1:p.Tyr1516Terfs frameshift nonsense NM_001407724.1:c.4547dup NP_001394653.1:p.Tyr1516Terfs frameshift nonsense NM_001407725.1:c.4547dup NP_001394654.1:p.Tyr1516Terfs frameshift nonsense NM_001407726.1:c.4547dup NP_001394655.1:p.Tyr1516Terfs frameshift nonsense NM_001407727.1:c.4547dup NP_001394656.1:p.Tyr1516Terfs frameshift nonsense NM_001407728.1:c.4547dup NP_001394657.1:p.Tyr1516Terfs frameshift nonsense NM_001407729.1:c.4547dup NP_001394658.1:p.Tyr1516Terfs frameshift nonsense NM_001407730.1:c.4547dup NP_001394659.1:p.Tyr1516Terfs frameshift nonsense NM_001407731.1:c.4547dup NP_001394660.1:p.Tyr1516Terfs frameshift nonsense NM_001407732.1:c.4544dup NP_001394661.1:p.Tyr1515Terfs frameshift nonsense NM_001407733.1:c.4544dup NP_001394662.1:p.Tyr1515Terfs frameshift nonsense NM_001407734.1:c.4544dup NP_001394663.1:p.Tyr1515Terfs frameshift nonsense NM_001407735.1:c.4544dup NP_001394664.1:p.Tyr1515Terfs frameshift nonsense NM_001407736.1:c.4544dup NP_001394665.1:p.Tyr1515Terfs frameshift nonsense NM_001407737.1:c.4544dup NP_001394666.1:p.Tyr1515Terfs frameshift nonsense NM_001407738.1:c.4544dup NP_001394667.1:p.Tyr1515Terfs frameshift nonsense NM_001407739.1:c.4544dup NP_001394668.1:p.Tyr1515Terfs frameshift nonsense NM_001407740.1:c.4544dup NP_001394669.1:p.Tyr1515Terfs frameshift nonsense NM_001407741.1:c.4544dup NP_001394670.1:p.Tyr1515Terfs frameshift nonsense NM_001407742.1:c.4544dup NP_001394671.1:p.Tyr1515Terfs frameshift nonsense NM_001407743.1:c.4544dup NP_001394672.1:p.Tyr1515Terfs frameshift nonsense NM_001407744.1:c.4544dup NP_001394673.1:p.Tyr1515Terfs frameshift nonsense NM_001407745.1:c.4544dup NP_001394674.1:p.Tyr1515Terfs frameshift nonsense NM_001407746.1:c.4544dup NP_001394675.1:p.Tyr1515Terfs frameshift nonsense NM_001407747.1:c.4544dup NP_001394676.1:p.Tyr1515Terfs frameshift nonsense NM_001407748.1:c.4544dup NP_001394677.1:p.Tyr1515Terfs frameshift nonsense NM_001407749.1:c.4544dup NP_001394678.1:p.Tyr1515Terfs frameshift nonsense NM_001407750.1:c.4544dup NP_001394679.1:p.Tyr1515Terfs frameshift nonsense NM_001407751.1:c.4544dup NP_001394680.1:p.Tyr1515Terfs frameshift nonsense NM_001407752.1:c.4544dup NP_001394681.1:p.Tyr1515Terfs frameshift nonsense NM_001407838.1:c.4541dup NP_001394767.1:p.Tyr1514Terfs frameshift nonsense NM_001407839.1:c.4541dup NP_001394768.1:p.Tyr1514Terfs frameshift nonsense NM_001407841.1:c.4541dup NP_001394770.1:p.Tyr1514Terfs frameshift nonsense NM_001407842.1:c.4541dup NP_001394771.1:p.Tyr1514Terfs frameshift nonsense NM_001407843.1:c.4541dup NP_001394772.1:p.Tyr1514Terfs frameshift nonsense NM_001407844.1:c.4541dup NP_001394773.1:p.Tyr1514Terfs frameshift nonsense NM_001407845.1:c.4541dup NP_001394774.1:p.Tyr1514Terfs frameshift nonsense NM_001407846.1:c.4541dup NP_001394775.1:p.Tyr1514Terfs frameshift nonsense NM_001407847.1:c.4541dup NP_001394776.1:p.Tyr1514Terfs frameshift nonsense NM_001407848.1:c.4541dup NP_001394777.1:p.Tyr1514Terfs frameshift nonsense NM_001407849.1:c.4541dup NP_001394778.1:p.Tyr1514Terfs frameshift nonsense NM_001407850.1:c.4541dup NP_001394779.1:p.Tyr1514Terfs frameshift nonsense NM_001407851.1:c.4541dup NP_001394780.1:p.Tyr1514Terfs frameshift nonsense NM_001407852.1:c.4541dup NP_001394781.1:p.Tyr1514Terfs frameshift nonsense NM_001407853.1:c.4541dup NP_001394782.1:p.Tyr1514Terfs frameshift nonsense NM_001407854.1:c.4688dup NP_001394783.1:p.Tyr1563Terfs frameshift nonsense NM_001407858.1:c.4685dup NP_001394787.1:p.Tyr1562Terfs frameshift nonsense NM_001407859.1:c.4685dup NP_001394788.1:p.Tyr1562Terfs frameshift nonsense NM_001407860.1:c.4685dup NP_001394789.1:p.Tyr1562Terfs frameshift nonsense NM_001407861.1:c.4682dup NP_001394790.1:p.Tyr1561Terfs frameshift nonsense NM_001407862.1:c.4487dup NP_001394791.1:p.Tyr1496Terfs frameshift nonsense NM_001407863.1:c.4562dup NP_001394792.1:p.Tyr1521Terfs frameshift nonsense NM_001407874.1:c.4481dup NP_001394803.1:p.Tyr1494Terfs frameshift nonsense NM_001407875.1:c.4481dup NP_001394804.1:p.Tyr1494Terfs frameshift nonsense NM_001407879.1:c.4478dup NP_001394808.1:p.Tyr1493Terfs frameshift nonsense NM_001407881.1:c.4478dup NP_001394810.1:p.Tyr1493Terfs frameshift nonsense NM_001407882.1:c.4478dup NP_001394811.1:p.Tyr1493Terfs frameshift nonsense NM_001407884.1:c.4478dup NP_001394813.1:p.Tyr1493Terfs frameshift nonsense NM_001407885.1:c.4478dup NP_001394814.1:p.Tyr1493Terfs frameshift nonsense NM_001407886.1:c.4478dup NP_001394815.1:p.Tyr1493Terfs frameshift nonsense NM_001407887.1:c.4478dup NP_001394816.1:p.Tyr1493Terfs frameshift nonsense NM_001407889.1:c.4478dup NP_001394818.1:p.Tyr1493Terfs frameshift nonsense NM_001407894.1:c.4475dup NP_001394823.1:p.Tyr1492Terfs frameshift nonsense NM_001407895.1:c.4475dup NP_001394824.1:p.Tyr1492Terfs frameshift nonsense NM_001407896.1:c.4475dup NP_001394825.1:p.Tyr1492Terfs frameshift nonsense NM_001407897.1:c.4475dup NP_001394826.1:p.Tyr1492Terfs frameshift nonsense NM_001407898.1:c.4475dup NP_001394827.1:p.Tyr1492Terfs frameshift nonsense NM_001407899.1:c.4475dup NP_001394828.1:p.Tyr1492Terfs frameshift nonsense NM_001407900.1:c.4475dup NP_001394829.1:p.Tyr1492Terfs frameshift nonsense NM_001407902.1:c.4475dup NP_001394831.1:p.Tyr1492Terfs frameshift nonsense NM_001407904.1:c.4475dup NP_001394833.1:p.Tyr1492Terfs frameshift nonsense NM_001407906.1:c.4475dup NP_001394835.1:p.Tyr1492Terfs frameshift nonsense NM_001407907.1:c.4475dup NP_001394836.1:p.Tyr1492Terfs frameshift nonsense NM_001407908.1:c.4475dup NP_001394837.1:p.Tyr1492Terfs frameshift nonsense NM_001407909.1:c.4475dup NP_001394838.1:p.Tyr1492Terfs frameshift nonsense NM_001407910.1:c.4475dup NP_001394839.1:p.Tyr1492Terfs frameshift nonsense NM_001407915.1:c.4472dup NP_001394844.1:p.Tyr1491Terfs frameshift nonsense NM_001407916.1:c.4472dup NP_001394845.1:p.Tyr1491Terfs frameshift nonsense NM_001407917.1:c.4472dup NP_001394846.1:p.Tyr1491Terfs frameshift nonsense NM_001407918.1:c.4472dup NP_001394847.1:p.Tyr1491Terfs frameshift nonsense NM_001407919.1:c.4565dup NP_001394848.1:p.Tyr1522Terfs frameshift nonsense NM_001407920.1:c.4424dup NP_001394849.1:p.Tyr1475Terfs frameshift nonsense NM_001407921.1:c.4424dup NP_001394850.1:p.Tyr1475Terfs frameshift nonsense NM_001407922.1:c.4424dup NP_001394851.1:p.Tyr1475Terfs frameshift nonsense NM_001407923.1:c.4424dup NP_001394852.1:p.Tyr1475Terfs frameshift nonsense NM_001407924.1:c.4424dup NP_001394853.1:p.Tyr1475Terfs frameshift nonsense NM_001407925.1:c.4424dup NP_001394854.1:p.Tyr1475Terfs frameshift nonsense NM_001407926.1:c.4424dup NP_001394855.1:p.Tyr1475Terfs frameshift nonsense NM_001407927.1:c.4421dup NP_001394856.1:p.Tyr1474Terfs frameshift nonsense NM_001407928.1:c.4421dup NP_001394857.1:p.Tyr1474Terfs frameshift nonsense NM_001407929.1:c.4421dup NP_001394858.1:p.Tyr1474Terfs frameshift nonsense NM_001407930.1:c.4421dup NP_001394859.1:p.Tyr1474Terfs frameshift nonsense NM_001407931.1:c.4421dup NP_001394860.1:p.Tyr1474Terfs frameshift nonsense NM_001407932.1:c.4421dup NP_001394861.1:p.Tyr1474Terfs frameshift nonsense NM_001407933.1:c.4421dup NP_001394862.1:p.Tyr1474Terfs frameshift nonsense NM_001407934.1:c.4418dup NP_001394863.1:p.Tyr1473Terfs frameshift nonsense NM_001407935.1:c.4418dup NP_001394864.1:p.Tyr1473Terfs frameshift nonsense NM_001407936.1:c.4418dup NP_001394865.1:p.Tyr1473Terfs frameshift nonsense NM_001407937.1:c.4565dup NP_001394866.1:p.Tyr1522Terfs frameshift nonsense NM_001407938.1:c.4565dup NP_001394867.1:p.Tyr1522Terfs frameshift nonsense NM_001407939.1:c.4562dup NP_001394868.1:p.Tyr1521Terfs frameshift nonsense NM_001407940.1:c.4562dup NP_001394869.1:p.Tyr1521Terfs frameshift nonsense NM_001407941.1:c.4559dup NP_001394870.1:p.Tyr1520Terfs frameshift nonsense NM_001407942.1:c.4547dup NP_001394871.1:p.Tyr1516Terfs frameshift nonsense NM_001407943.1:c.4544dup NP_001394872.1:p.Tyr1515Terfs frameshift nonsense NM_001407944.1:c.4544dup NP_001394873.1:p.Tyr1515Terfs frameshift nonsense NM_001407945.1:c.4544dup NP_001394874.1:p.Tyr1515Terfs frameshift nonsense NM_001407946.1:c.4355dup NP_001394875.1:p.Tyr1452Terfs frameshift nonsense NM_001407947.1:c.4355dup NP_001394876.1:p.Tyr1452Terfs frameshift nonsense NM_001407948.1:c.4355dup NP_001394877.1:p.Tyr1452Terfs frameshift nonsense NM_001407949.1:c.4355dup NP_001394878.1:p.Tyr1452Terfs frameshift nonsense NM_001407950.1:c.4352dup NP_001394879.1:p.Tyr1451Terfs frameshift nonsense NM_001407951.1:c.4352dup NP_001394880.1:p.Tyr1451Terfs frameshift nonsense NM_001407952.1:c.4352dup NP_001394881.1:p.Tyr1451Terfs frameshift nonsense NM_001407953.1:c.4352dup NP_001394882.1:p.Tyr1451Terfs frameshift nonsense NM_001407954.1:c.4352dup NP_001394883.1:p.Tyr1451Terfs frameshift nonsense NM_001407955.1:c.4352dup NP_001394884.1:p.Tyr1451Terfs frameshift nonsense NM_001407956.1:c.4349dup NP_001394885.1:p.Tyr1450Terfs frameshift nonsense NM_001407957.1:c.4349dup NP_001394886.1:p.Tyr1450Terfs frameshift nonsense NM_001407958.1:c.4349dup NP_001394887.1:p.Tyr1450Terfs frameshift nonsense NM_001407959.1:c.4307dup NP_001394888.1:p.Tyr1436Terfs frameshift nonsense NM_001407960.1:c.4304dup NP_001394889.1:p.Tyr1435Terfs frameshift nonsense NM_001407962.1:c.4304dup NP_001394891.1:p.Tyr1435Terfs frameshift nonsense NM_001407963.1:c.4301dup NP_001394892.1:p.Tyr1434Terfs frameshift nonsense NM_001407964.1:c.4226dup NP_001394893.1:p.Tyr1409Terfs frameshift nonsense NM_001407965.1:c.4181dup NP_001394894.1:p.Tyr1394Terfs frameshift nonsense NM_001407966.1:c.3800dup NP_001394895.1:p.Tyr1267Terfs frameshift nonsense NM_001407967.1:c.3797dup NP_001394896.1:p.Tyr1266Terfs frameshift nonsense NM_001407968.1:c.2084dup NP_001394897.1:p.Tyr695Terfs frameshift nonsense NM_001407969.1:c.2081dup NP_001394898.1:p.Tyr694Terfs frameshift nonsense NM_001407970.1:c.1445dup NP_001394899.1:p.Tyr482Terfs frameshift nonsense NM_001407971.1:c.1445dup NP_001394900.1:p.Tyr482Terfs frameshift nonsense NM_001407972.1:c.1442dup NP_001394901.1:p.Tyr481Terfs frameshift nonsense NM_001407973.1:c.1379dup NP_001394902.1:p.Tyr460Terfs frameshift nonsense NM_001407974.1:c.1379dup NP_001394903.1:p.Tyr460Terfs frameshift nonsense NM_001407975.1:c.1379dup NP_001394904.1:p.Tyr460Terfs frameshift nonsense NM_001407976.1:c.1379dup NP_001394905.1:p.Tyr460Terfs frameshift nonsense NM_001407977.1:c.1379dup NP_001394906.1:p.Tyr460Terfs frameshift nonsense NM_001407978.1:c.1379dup NP_001394907.1:p.Tyr460Terfs frameshift nonsense NM_001407979.1:c.1376dup NP_001394908.1:p.Tyr459Terfs frameshift nonsense NM_001407980.1:c.1376dup NP_001394909.1:p.Tyr459Terfs frameshift nonsense NM_001407981.1:c.1376dup NP_001394910.1:p.Tyr459Terfs frameshift nonsense NM_001407982.1:c.1376dup NP_001394911.1:p.Tyr459Terfs frameshift nonsense NM_001407983.1:c.1376dup NP_001394912.1:p.Tyr459Terfs frameshift nonsense NM_001407984.1:c.1376dup NP_001394913.1:p.Tyr459Terfs frameshift nonsense NM_001407985.1:c.1376dup NP_001394914.1:p.Tyr459Terfs frameshift nonsense NM_001407986.1:c.1376dup NP_001394915.1:p.Tyr459Terfs frameshift nonsense NM_001407990.1:c.1376dup NP_001394919.1:p.Tyr459Terfs frameshift nonsense NM_001407991.1:c.1376dup NP_001394920.1:p.Tyr459Terfs frameshift nonsense NM_001407992.1:c.1376dup NP_001394921.1:p.Tyr459Terfs frameshift nonsense NM_001407993.1:c.1376dup NP_001394922.1:p.Tyr459Terfs frameshift nonsense NM_001408392.1:c.1373dup NP_001395321.1:p.Tyr458Terfs frameshift nonsense NM_001408396.1:c.1373dup NP_001395325.1:p.Tyr458Terfs frameshift nonsense NM_001408397.1:c.1373dup NP_001395326.1:p.Tyr458Terfs frameshift nonsense NM_001408398.1:c.1373dup NP_001395327.1:p.Tyr458Terfs frameshift nonsense NM_001408399.1:c.1373dup NP_001395328.1:p.Tyr458Terfs frameshift nonsense NM_001408400.1:c.1373dup NP_001395329.1:p.Tyr458Terfs frameshift nonsense NM_001408401.1:c.1373dup NP_001395330.1:p.Tyr458Terfs frameshift nonsense NM_001408402.1:c.1373dup NP_001395331.1:p.Tyr458Terfs frameshift nonsense NM_001408403.1:c.1373dup NP_001395332.1:p.Tyr458Terfs frameshift nonsense NM_001408404.1:c.1373dup NP_001395333.1:p.Tyr458Terfs frameshift nonsense NM_001408406.1:c.1370dup NP_001395335.1:p.Tyr457Terfs frameshift nonsense NM_001408407.1:c.1370dup NP_001395336.1:p.Tyr457Terfs frameshift nonsense NM_001408408.1:c.1370dup NP_001395337.1:p.Tyr457Terfs frameshift nonsense NM_001408409.1:c.1367dup NP_001395338.1:p.Tyr456Terfs frameshift nonsense NM_001408410.1:c.1304dup NP_001395339.1:p.Tyr435Terfs frameshift nonsense NM_001408411.1:c.1301dup NP_001395340.1:p.Tyr434Terfs frameshift nonsense NM_001408412.1:c.1298dup NP_001395341.1:p.Tyr433Terfs frameshift nonsense NM_001408413.1:c.1298dup NP_001395342.1:p.Tyr433Terfs frameshift nonsense NM_001408414.1:c.1298dup NP_001395343.1:p.Tyr433Terfs frameshift nonsense NM_001408415.1:c.1298dup NP_001395344.1:p.Tyr433Terfs frameshift nonsense NM_001408416.1:c.1298dup NP_001395345.1:p.Tyr433Terfs frameshift nonsense NM_001408418.1:c.1262dup NP_001395347.1:p.Tyr421Terfs frameshift nonsense NM_001408419.1:c.1262dup NP_001395348.1:p.Tyr421Terfs frameshift nonsense NM_001408420.1:c.1262dup NP_001395349.1:p.Tyr421Terfs frameshift nonsense NM_001408421.1:c.1259dup NP_001395350.1:p.Tyr420Terfs frameshift nonsense NM_001408422.1:c.1259dup NP_001395351.1:p.Tyr420Terfs frameshift nonsense NM_001408423.1:c.1259dup NP_001395352.1:p.Tyr420Terfs frameshift nonsense NM_001408424.1:c.1259dup NP_001395353.1:p.Tyr420Terfs frameshift nonsense NM_001408425.1:c.1256dup NP_001395354.1:p.Tyr419Terfs frameshift nonsense NM_001408426.1:c.1256dup NP_001395355.1:p.Tyr419Terfs frameshift nonsense NM_001408427.1:c.1256dup NP_001395356.1:p.Tyr419Terfs frameshift nonsense NM_001408428.1:c.1256dup NP_001395357.1:p.Tyr419Terfs frameshift nonsense NM_001408429.1:c.1256dup NP_001395358.1:p.Tyr419Terfs frameshift nonsense NM_001408430.1:c.1256dup NP_001395359.1:p.Tyr419Terfs frameshift nonsense NM_001408431.1:c.1256dup NP_001395360.1:p.Tyr419Terfs frameshift nonsense NM_001408432.1:c.1253dup NP_001395361.1:p.Tyr418Terfs frameshift nonsense NM_001408433.1:c.1253dup NP_001395362.1:p.Tyr418Terfs frameshift nonsense NM_001408434.1:c.1253dup NP_001395363.1:p.Tyr418Terfs frameshift nonsense NM_001408435.1:c.1253dup NP_001395364.1:p.Tyr418Terfs frameshift nonsense NM_001408436.1:c.1253dup NP_001395365.1:p.Tyr418Terfs frameshift nonsense NM_001408437.1:c.1253dup NP_001395366.1:p.Tyr418Terfs frameshift nonsense NM_001408438.1:c.1253dup NP_001395367.1:p.Tyr418Terfs frameshift nonsense NM_001408439.1:c.1253dup NP_001395368.1:p.Tyr418Terfs frameshift nonsense NM_001408440.1:c.1253dup NP_001395369.1:p.Tyr418Terfs frameshift nonsense NM_001408441.1:c.1253dup NP_001395370.1:p.Tyr418Terfs frameshift nonsense NM_001408442.1:c.1253dup NP_001395371.1:p.Tyr418Terfs frameshift nonsense NM_001408443.1:c.1253dup NP_001395372.1:p.Tyr418Terfs frameshift nonsense NM_001408444.1:c.1253dup NP_001395373.1:p.Tyr418Terfs frameshift nonsense NM_001408445.1:c.1250dup NP_001395374.1:p.Tyr417Terfs frameshift nonsense NM_001408446.1:c.1250dup NP_001395375.1:p.Tyr417Terfs frameshift nonsense NM_001408447.1:c.1250dup NP_001395376.1:p.Tyr417Terfs frameshift nonsense NM_001408448.1:c.1250dup NP_001395377.1:p.Tyr417Terfs frameshift nonsense NM_001408450.1:c.1250dup NP_001395379.1:p.Tyr417Terfs frameshift nonsense NM_001408451.1:c.1244dup NP_001395380.1:p.Tyr415Terfs frameshift nonsense NM_001408452.1:c.1238dup NP_001395381.1:p.Tyr413Terfs frameshift nonsense NM_001408453.1:c.1238dup NP_001395382.1:p.Tyr413Terfs frameshift nonsense NM_001408454.1:c.1238dup NP_001395383.1:p.Tyr413Terfs frameshift nonsense NM_001408455.1:c.1238dup NP_001395384.1:p.Tyr413Terfs frameshift nonsense NM_001408456.1:c.1238dup NP_001395385.1:p.Tyr413Terfs frameshift nonsense NM_001408457.1:c.1238dup NP_001395386.1:p.Tyr413Terfs frameshift nonsense NM_001408458.1:c.1235dup NP_001395387.1:p.Tyr412Terfs frameshift nonsense NM_001408459.1:c.1235dup NP_001395388.1:p.Tyr412Terfs frameshift nonsense NM_001408460.1:c.1235dup NP_001395389.1:p.Tyr412Terfs frameshift nonsense NM_001408461.1:c.1235dup NP_001395390.1:p.Tyr412Terfs frameshift nonsense NM_001408462.1:c.1235dup NP_001395391.1:p.Tyr412Terfs frameshift nonsense NM_001408463.1:c.1235dup NP_001395392.1:p.Tyr412Terfs frameshift nonsense NM_001408464.1:c.1235dup NP_001395393.1:p.Tyr412Terfs frameshift nonsense NM_001408465.1:c.1235dup NP_001395394.1:p.Tyr412Terfs frameshift nonsense NM_001408466.1:c.1235dup NP_001395395.1:p.Tyr412Terfs frameshift nonsense NM_001408467.1:c.1235dup NP_001395396.1:p.Tyr412Terfs frameshift nonsense NM_001408468.1:c.1232dup NP_001395397.1:p.Tyr411Terfs frameshift nonsense NM_001408469.1:c.1232dup NP_001395398.1:p.Tyr411Terfs frameshift nonsense NM_001408470.1:c.1232dup NP_001395399.1:p.Tyr411Terfs frameshift nonsense NM_001408472.1:c.1376dup NP_001395401.1:p.Tyr459Terfs frameshift nonsense NM_001408473.1:c.1373dup NP_001395402.1:p.Tyr458Terfs frameshift nonsense NM_001408474.1:c.1178dup NP_001395403.1:p.Tyr393Terfs frameshift nonsense NM_001408475.1:c.1175dup NP_001395404.1:p.Tyr392Terfs frameshift nonsense NM_001408476.1:c.1175dup NP_001395405.1:p.Tyr392Terfs frameshift nonsense NM_001408478.1:c.1169dup NP_001395407.1:p.Tyr390Terfs frameshift nonsense NM_001408479.1:c.1169dup NP_001395408.1:p.Tyr390Terfs frameshift nonsense NM_001408480.1:c.1169dup NP_001395409.1:p.Tyr390Terfs frameshift nonsense NM_001408481.1:c.1166dup NP_001395410.1:p.Tyr389Terfs frameshift nonsense NM_001408482.1:c.1166dup NP_001395411.1:p.Tyr389Terfs frameshift nonsense NM_001408483.1:c.1166dup NP_001395412.1:p.Tyr389Terfs frameshift nonsense NM_001408484.1:c.1166dup NP_001395413.1:p.Tyr389Terfs frameshift nonsense NM_001408485.1:c.1166dup NP_001395414.1:p.Tyr389Terfs frameshift nonsense NM_001408489.1:c.1166dup NP_001395418.1:p.Tyr389Terfs frameshift nonsense NM_001408490.1:c.1166dup NP_001395419.1:p.Tyr389Terfs frameshift nonsense NM_001408491.1:c.1166dup NP_001395420.1:p.Tyr389Terfs frameshift nonsense NM_001408492.1:c.1163dup NP_001395421.1:p.Tyr388Terfs frameshift nonsense NM_001408493.1:c.1163dup NP_001395422.1:p.Tyr388Terfs frameshift nonsense NM_001408494.1:c.1139dup NP_001395423.1:p.Tyr380Terfs frameshift nonsense NM_001408495.1:c.1133dup NP_001395424.1:p.Tyr378Terfs frameshift nonsense NM_001408496.1:c.1115dup NP_001395425.1:p.Tyr372Terfs frameshift nonsense NM_001408497.1:c.1115dup NP_001395426.1:p.Tyr372Terfs frameshift nonsense NM_001408498.1:c.1115dup NP_001395427.1:p.Tyr372Terfs frameshift nonsense NM_001408499.1:c.1115dup NP_001395428.1:p.Tyr372Terfs frameshift nonsense NM_001408500.1:c.1115dup NP_001395429.1:p.Tyr372Terfs frameshift nonsense NM_001408501.1:c.1115dup NP_001395430.1:p.Tyr372Terfs frameshift nonsense NM_001408502.1:c.1112dup NP_001395431.1:p.Tyr371Terfs frameshift nonsense NM_001408503.1:c.1112dup NP_001395432.1:p.Tyr371Terfs frameshift nonsense NM_001408504.1:c.1112dup NP_001395433.1:p.Tyr371Terfs frameshift nonsense NM_001408505.1:c.1109dup NP_001395434.1:p.Tyr370Terfs frameshift nonsense NM_001408506.1:c.1052dup NP_001395435.1:p.Tyr351Terfs frameshift nonsense NM_001408507.1:c.1049dup NP_001395436.1:p.Tyr350Terfs frameshift nonsense NM_001408508.1:c.1040dup NP_001395437.1:p.Tyr347Terfs frameshift nonsense NM_001408509.1:c.1037dup NP_001395438.1:p.Tyr346Terfs frameshift nonsense NM_001408510.1:c.998dup NP_001395439.1:p.Tyr333Terfs frameshift nonsense NM_001408511.1:c.995dup NP_001395440.1:p.Tyr332Terfs frameshift nonsense NM_001408512.1:c.875dup NP_001395441.1:p.Tyr292Terfs frameshift nonsense NM_001408513.1:c.848dup NP_001395442.1:p.Tyr283Terfs frameshift nonsense NM_007297.4:c.4547dup NP_009228.2:p.Tyr1516Ter nonsense NM_007298.4:c.1376dup NP_009229.2:p.Tyr459Terfs frameshift nonsense NM_007299.4:c.1376dup NP_009230.2:p.Tyr459Ter nonsense NM_007300.4:c.4751dup NP_009231.2:p.Tyr1584Ter nonsense NM_007304.2:c.1376dup NP_009235.2:p.Tyr459Terfs frameshift nonsense NR_027676.2:n.4865dup non-coding transcript variant NC_000017.11:g.43071226dup NC_000017.10:g.41223243dup NG_005905.2:g.146758dup LRG_292:g.146758dup LRG_292t1:c.4688dup LRG_292p1:p.Tyr1563Terfs - Protein change
- Y1584*, Y459*, Y1563*, Y1516*
- Other names
-
4807dupA
- Canonical SPDI
- NC_000017.11:43071225: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 |
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) |
criteria provided, single submitter
|
Aug 16, 2019 | RCV001237991.15 | |
| Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257733.13 |
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: SCV000323786.2
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: SCV000326032.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
|
Pathogenic
(Aug 16, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001410785.5
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been … (more)
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 27882536). ClinVar contains an entry for this variant (Variation ID: 266490). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
|
Comment:
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 27882536). ClinVar contains an entry for this variant (Variation ID: 266490). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual affected with breast and/or ovarian cancer (PMID: 27882536). ClinVar contains an entry for this variant (Variation ID: 266490). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr1563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| BRCA1 and BRCA2 mutation testing in Cyprus; a population based study. | Loizidou MA | Clinical genetics | 2017 | PMID: 27882536 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
Text-mined citations for rs886040243 ...
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.