Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4699_4708del (p.Gly1567fs)
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
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NM_007294.4(BRCA1):c.4699_4708del (p.Gly1567fs)
Variation ID: 266491 Accession: VCV000266491.6
- Type and length
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Deletion, 10 bp
- Location
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Cytogenetic: 17q21.31 17: 43071206-43071215 (GRCh38) [ NCBI UCSC ] 17: 41223223-41223232 (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 7, 2023 Oct 18, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4699_4708del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly1567fs frameshift NM_001407571.1:c.4486_4495delGGAATCAGCC NP_001394500.1:p.Gly1496Serfs frameshift NM_001407581.1:c.4765_4774delGGAATCAGCC NP_001394510.1:p.Gly1589Serfs frameshift NM_001407582.1:c.4765_4774delGGAATCAGCC NP_001394511.1:p.Gly1589Serfs frameshift NM_001407583.1:c.4762_4771delGGAATCAGCC NP_001394512.1:p.Gly1588Serfs frameshift NM_001407585.1:c.4762_4771delGGAATCAGCC NP_001394514.1:p.Gly1588Serfs frameshift NM_001407587.1:c.4762_4771delGGAATCAGCC NP_001394516.1:p.Gly1588Serfs frameshift NM_001407590.1:c.4759_4768delGGAATCAGCC NP_001394519.1:p.Gly1587Serfs frameshift NM_001407591.1:c.4759_4768delGGAATCAGCC NP_001394520.1:p.Gly1587Serfs frameshift NM_001407593.1:c.4699_4708delGGAATCAGCC NP_001394522.1:p.Gly1567Serfs frameshift NM_001407594.1:c.4699_4708delGGAATCAGCC NP_001394523.1:p.Gly1567Serfs frameshift NM_001407596.1:c.4699_4708delGGAATCAGCC NP_001394525.1:p.Gly1567Serfs frameshift NM_001407597.1:c.4699_4708delGGAATCAGCC NP_001394526.1:p.Gly1567Serfs frameshift NM_001407598.1:c.4699_4708delGGAATCAGCC NP_001394527.1:p.Gly1567Serfs frameshift NM_001407602.1:c.4699_4708delGGAATCAGCC NP_001394531.1:p.Gly1567Serfs frameshift NM_001407603.1:c.4699_4708delGGAATCAGCC NP_001394532.1:p.Gly1567Serfs frameshift NM_001407605.1:c.4699_4708delGGAATCAGCC NP_001394534.1:p.Gly1567Serfs frameshift NM_001407610.1:c.4696_4705delGGAATCAGCC NP_001394539.1:p.Gly1566Serfs frameshift NM_001407611.1:c.4696_4705delGGAATCAGCC NP_001394540.1:p.Gly1566Serfs frameshift NM_001407612.1:c.4696_4705delGGAATCAGCC NP_001394541.1:p.Gly1566Serfs frameshift NM_001407613.1:c.4696_4705delGGAATCAGCC NP_001394542.1:p.Gly1566Serfs frameshift NM_001407614.1:c.4696_4705delGGAATCAGCC NP_001394543.1:p.Gly1566Serfs frameshift NM_001407615.1:c.4696_4705delGGAATCAGCC NP_001394544.1:p.Gly1566Serfs frameshift NM_001407616.1:c.4696_4705delGGAATCAGCC NP_001394545.1:p.Gly1566Serfs frameshift NM_001407617.1:c.4696_4705delGGAATCAGCC NP_001394546.1:p.Gly1566Serfs frameshift NM_001407618.1:c.4696_4705delGGAATCAGCC NP_001394547.1:p.Gly1566Serfs frameshift NM_001407619.1:c.4696_4705delGGAATCAGCC NP_001394548.1:p.Gly1566Serfs frameshift NM_001407620.1:c.4696_4705delGGAATCAGCC NP_001394549.1:p.Gly1566Serfs frameshift NM_001407621.1:c.4696_4705delGGAATCAGCC NP_001394550.1:p.Gly1566Serfs frameshift NM_001407622.1:c.4696_4705delGGAATCAGCC NP_001394551.1:p.Gly1566Serfs frameshift NM_001407623.1:c.4696_4705delGGAATCAGCC NP_001394552.1:p.Gly1566Serfs frameshift NM_001407624.1:c.4696_4705delGGAATCAGCC NP_001394553.1:p.Gly1566Serfs frameshift NM_001407625.1:c.4696_4705delGGAATCAGCC NP_001394554.1:p.Gly1566Serfs frameshift NM_001407626.1:c.4696_4705delGGAATCAGCC NP_001394555.1:p.Gly1566Serfs frameshift NM_001407627.1:c.4693_4702delGGAATCAGCC NP_001394556.1:p.Gly1565Serfs frameshift NM_001407628.1:c.4693_4702delGGAATCAGCC NP_001394557.1:p.Gly1565Serfs frameshift NM_001407629.1:c.4693_4702delGGAATCAGCC NP_001394558.1:p.Gly1565Serfs frameshift NM_001407630.1:c.4693_4702delGGAATCAGCC NP_001394559.1:p.Gly1565Serfs frameshift NM_001407631.1:c.4693_4702delGGAATCAGCC NP_001394560.1:p.Gly1565Serfs frameshift NM_001407632.1:c.4693_4702delGGAATCAGCC NP_001394561.1:p.Gly1565Serfs frameshift NM_001407633.1:c.4693_4702delGGAATCAGCC NP_001394562.1:p.Gly1565Serfs frameshift NM_001407634.1:c.4693_4702delGGAATCAGCC NP_001394563.1:p.Gly1565Serfs frameshift NM_001407635.1:c.4693_4702delGGAATCAGCC NP_001394564.1:p.Gly1565Serfs frameshift NM_001407636.1:c.4693_4702delGGAATCAGCC NP_001394565.1:p.Gly1565Serfs frameshift NM_001407637.1:c.4693_4702delGGAATCAGCC NP_001394566.1:p.Gly1565Serfs frameshift NM_001407638.1:c.4693_4702delGGAATCAGCC NP_001394567.1:p.Gly1565Serfs frameshift NM_001407639.1:c.4693_4702delGGAATCAGCC NP_001394568.1:p.Gly1565Serfs frameshift NM_001407640.1:c.4693_4702delGGAATCAGCC NP_001394569.1:p.Gly1565Serfs frameshift NM_001407641.1:c.4693_4702delGGAATCAGCC NP_001394570.1:p.Gly1565Serfs frameshift NM_001407642.1:c.4693_4702delGGAATCAGCC NP_001394571.1:p.Gly1565Serfs frameshift NM_001407644.1:c.4690_4699delGGAATCAGCC NP_001394573.1:p.Gly1564Serfs frameshift NM_001407645.1:c.4690_4699delGGAATCAGCC NP_001394574.1:p.Gly1564Serfs frameshift NM_001407646.1:c.4687_4696delGGAATCAGCC NP_001394575.1:p.Gly1563Serfs frameshift NM_001407647.1:c.4684_4693delGGAATCAGCC NP_001394576.1:p.Gly1562Serfs frameshift NM_001407648.1:c.4642_4651delGGAATCAGCC NP_001394577.1:p.Gly1548Serfs frameshift NM_001407649.1:c.4639_4648delGGAATCAGCC NP_001394578.1:p.Gly1547Serfs frameshift NM_001407652.1:c.4699_4708delGGAATCAGCC NP_001394581.1:p.Gly1567Serfs frameshift NM_001407653.1:c.4621_4630delGGAATCAGCC NP_001394582.1:p.Gly1541Serfs frameshift NM_001407654.1:c.4621_4630delGGAATCAGCC NP_001394583.1:p.Gly1541Serfs frameshift NM_001407655.1:c.4621_4630delGGAATCAGCC NP_001394584.1:p.Gly1541Serfs frameshift NM_001407656.1:c.4618_4627delGGAATCAGCC NP_001394585.1:p.Gly1540Serfs frameshift NM_001407657.1:c.4618_4627delGGAATCAGCC NP_001394586.1:p.Gly1540Serfs frameshift NM_001407658.1:c.4618_4627delGGAATCAGCC NP_001394587.1:p.Gly1540Serfs frameshift NM_001407659.1:c.4615_4624delGGAATCAGCC NP_001394588.1:p.Gly1539Serfs frameshift NM_001407660.1:c.4615_4624delGGAATCAGCC NP_001394589.1:p.Gly1539Serfs frameshift NM_001407661.1:c.4615_4624delGGAATCAGCC NP_001394590.1:p.Gly1539Serfs frameshift NM_001407662.1:c.4615_4624delGGAATCAGCC NP_001394591.1:p.Gly1539Serfs frameshift NM_001407663.1:c.4615_4624delGGAATCAGCC NP_001394592.1:p.Gly1539Serfs frameshift NM_001407664.1:c.4576_4585delGGAATCAGCC NP_001394593.1:p.Gly1526Serfs frameshift NM_001407665.1:c.4576_4585delGGAATCAGCC NP_001394594.1:p.Gly1526Serfs frameshift NM_001407666.1:c.4576_4585delGGAATCAGCC NP_001394595.1:p.Gly1526Serfs frameshift NM_001407667.1:c.4576_4585delGGAATCAGCC NP_001394596.1:p.Gly1526Serfs frameshift NM_001407668.1:c.4576_4585delGGAATCAGCC NP_001394597.1:p.Gly1526Serfs frameshift NM_001407669.1:c.4576_4585delGGAATCAGCC NP_001394598.1:p.Gly1526Serfs frameshift NM_001407670.1:c.4573_4582delGGAATCAGCC NP_001394599.1:p.Gly1525Serfs frameshift NM_001407671.1:c.4573_4582delGGAATCAGCC NP_001394600.1:p.Gly1525Serfs frameshift NM_001407672.1:c.4573_4582delGGAATCAGCC NP_001394601.1:p.Gly1525Serfs frameshift NM_001407673.1:c.4573_4582delGGAATCAGCC NP_001394602.1:p.Gly1525Serfs frameshift NM_001407674.1:c.4573_4582delGGAATCAGCC NP_001394603.1:p.Gly1525Serfs frameshift NM_001407675.1:c.4573_4582delGGAATCAGCC NP_001394604.1:p.Gly1525Serfs frameshift NM_001407676.1:c.4573_4582delGGAATCAGCC NP_001394605.1:p.Gly1525Serfs frameshift NM_001407677.1:c.4573_4582delGGAATCAGCC NP_001394606.1:p.Gly1525Serfs frameshift NM_001407678.1:c.4573_4582delGGAATCAGCC NP_001394607.1:p.Gly1525Serfs frameshift NM_001407679.1:c.4573_4582delGGAATCAGCC NP_001394608.1:p.Gly1525Serfs frameshift NM_001407680.1:c.4573_4582delGGAATCAGCC NP_001394609.1:p.Gly1525Serfs frameshift NM_001407681.1:c.4570_4579delGGAATCAGCC NP_001394610.1:p.Gly1524Serfs frameshift NM_001407682.1:c.4570_4579delGGAATCAGCC NP_001394611.1:p.Gly1524Serfs frameshift NM_001407683.1:c.4570_4579delGGAATCAGCC NP_001394612.1:p.Gly1524Serfs frameshift NM_001407684.1:c.4699_4708delGGAATCAGCC NP_001394613.1:p.Gly1567Serfs frameshift NM_001407685.1:c.4570_4579delGGAATCAGCC NP_001394614.1:p.Gly1524Serfs frameshift NM_001407686.1:c.4570_4579delGGAATCAGCC NP_001394615.1:p.Gly1524Serfs frameshift NM_001407687.1:c.4570_4579delGGAATCAGCC NP_001394616.1:p.Gly1524Serfs frameshift NM_001407688.1:c.4570_4579delGGAATCAGCC NP_001394617.1:p.Gly1524Serfs frameshift NM_001407689.1:c.4570_4579delGGAATCAGCC NP_001394618.1:p.Gly1524Serfs frameshift NM_001407690.1:c.4567_4576delGGAATCAGCC NP_001394619.1:p.Gly1523Serfs frameshift NM_001407691.1:c.4567_4576delGGAATCAGCC NP_001394620.1:p.Gly1523Serfs frameshift NM_001407692.1:c.4558_4567delGGAATCAGCC NP_001394621.1:p.Gly1520Serfs frameshift NM_001407694.1:c.4558_4567delGGAATCAGCC NP_001394623.1:p.Gly1520Serfs frameshift NM_001407695.1:c.4558_4567delGGAATCAGCC NP_001394624.1:p.Gly1520Serfs frameshift NM_001407696.1:c.4558_4567delGGAATCAGCC NP_001394625.1:p.Gly1520Serfs frameshift NM_001407697.1:c.4558_4567delGGAATCAGCC NP_001394626.1:p.Gly1520Serfs frameshift NM_001407698.1:c.4558_4567delGGAATCAGCC NP_001394627.1:p.Gly1520Serfs frameshift NM_001407724.1:c.4558_4567delGGAATCAGCC NP_001394653.1:p.Gly1520Serfs frameshift NM_001407725.1:c.4558_4567delGGAATCAGCC NP_001394654.1:p.Gly1520Serfs frameshift NM_001407726.1:c.4558_4567delGGAATCAGCC NP_001394655.1:p.Gly1520Serfs frameshift NM_001407727.1:c.4558_4567delGGAATCAGCC NP_001394656.1:p.Gly1520Serfs frameshift NM_001407728.1:c.4558_4567delGGAATCAGCC NP_001394657.1:p.Gly1520Serfs frameshift NM_001407729.1:c.4558_4567delGGAATCAGCC NP_001394658.1:p.Gly1520Serfs frameshift NM_001407730.1:c.4558_4567delGGAATCAGCC NP_001394659.1:p.Gly1520Serfs frameshift NM_001407731.1:c.4558_4567delGGAATCAGCC NP_001394660.1:p.Gly1520Serfs frameshift NM_001407732.1:c.4555_4564delGGAATCAGCC NP_001394661.1:p.Gly1519Serfs frameshift NM_001407733.1:c.4555_4564delGGAATCAGCC NP_001394662.1:p.Gly1519Serfs frameshift NM_001407734.1:c.4555_4564delGGAATCAGCC NP_001394663.1:p.Gly1519Serfs frameshift NM_001407735.1:c.4555_4564delGGAATCAGCC NP_001394664.1:p.Gly1519Serfs frameshift NM_001407736.1:c.4555_4564delGGAATCAGCC NP_001394665.1:p.Gly1519Serfs frameshift NM_001407737.1:c.4555_4564delGGAATCAGCC NP_001394666.1:p.Gly1519Serfs frameshift NM_001407738.1:c.4555_4564delGGAATCAGCC NP_001394667.1:p.Gly1519Serfs frameshift NM_001407739.1:c.4555_4564delGGAATCAGCC NP_001394668.1:p.Gly1519Serfs frameshift NM_001407740.1:c.4555_4564delGGAATCAGCC NP_001394669.1:p.Gly1519Serfs frameshift NM_001407741.1:c.4555_4564delGGAATCAGCC NP_001394670.1:p.Gly1519Serfs frameshift NM_001407742.1:c.4555_4564delGGAATCAGCC NP_001394671.1:p.Gly1519Serfs frameshift NM_001407743.1:c.4555_4564delGGAATCAGCC NP_001394672.1:p.Gly1519Serfs frameshift NM_001407744.1:c.4555_4564delGGAATCAGCC NP_001394673.1:p.Gly1519Serfs frameshift NM_001407745.1:c.4555_4564delGGAATCAGCC NP_001394674.1:p.Gly1519Serfs frameshift NM_001407746.1:c.4555_4564delGGAATCAGCC NP_001394675.1:p.Gly1519Serfs frameshift NM_001407747.1:c.4555_4564delGGAATCAGCC NP_001394676.1:p.Gly1519Serfs frameshift NM_001407748.1:c.4555_4564delGGAATCAGCC NP_001394677.1:p.Gly1519Serfs frameshift NM_001407749.1:c.4555_4564delGGAATCAGCC NP_001394678.1:p.Gly1519Serfs frameshift NM_001407750.1:c.4555_4564delGGAATCAGCC NP_001394679.1:p.Gly1519Serfs frameshift NM_001407751.1:c.4555_4564delGGAATCAGCC NP_001394680.1:p.Gly1519Serfs frameshift NM_001407752.1:c.4555_4564delGGAATCAGCC NP_001394681.1:p.Gly1519Serfs frameshift NM_001407838.1:c.4552_4561delGGAATCAGCC NP_001394767.1:p.Gly1518Serfs frameshift NM_001407839.1:c.4552_4561delGGAATCAGCC NP_001394768.1:p.Gly1518Serfs frameshift NM_001407841.1:c.4552_4561delGGAATCAGCC NP_001394770.1:p.Gly1518Serfs frameshift NM_001407842.1:c.4552_4561delGGAATCAGCC NP_001394771.1:p.Gly1518Serfs frameshift NM_001407843.1:c.4552_4561delGGAATCAGCC NP_001394772.1:p.Gly1518Serfs frameshift NM_001407844.1:c.4552_4561delGGAATCAGCC NP_001394773.1:p.Gly1518Serfs frameshift NM_001407845.1:c.4552_4561delGGAATCAGCC NP_001394774.1:p.Gly1518Serfs frameshift NM_001407846.1:c.4552_4561delGGAATCAGCC NP_001394775.1:p.Gly1518Serfs frameshift NM_001407847.1:c.4552_4561delGGAATCAGCC NP_001394776.1:p.Gly1518Serfs frameshift NM_001407848.1:c.4552_4561delGGAATCAGCC NP_001394777.1:p.Gly1518Serfs frameshift NM_001407849.1:c.4552_4561delGGAATCAGCC NP_001394778.1:p.Gly1518Serfs frameshift NM_001407850.1:c.4552_4561delGGAATCAGCC NP_001394779.1:p.Gly1518Serfs frameshift NM_001407851.1:c.4552_4561delGGAATCAGCC NP_001394780.1:p.Gly1518Serfs frameshift NM_001407852.1:c.4552_4561delGGAATCAGCC NP_001394781.1:p.Gly1518Serfs frameshift NM_001407853.1:c.4552_4561delGGAATCAGCC NP_001394782.1:p.Gly1518Serfs frameshift NM_001407854.1:c.4699_4708delGGAATCAGCC NP_001394783.1:p.Gly1567Serfs frameshift NM_001407858.1:c.4696_4705delGGAATCAGCC NP_001394787.1:p.Gly1566Serfs frameshift NM_001407859.1:c.4696_4705delGGAATCAGCC NP_001394788.1:p.Gly1566Serfs frameshift NM_001407860.1:c.4696_4705delGGAATCAGCC NP_001394789.1:p.Gly1566Serfs frameshift NM_001407861.1:c.4693_4702delGGAATCAGCC NP_001394790.1:p.Gly1565Serfs frameshift NM_001407862.1:c.4498_4507delGGAATCAGCC NP_001394791.1:p.Gly1500Serfs frameshift NM_001407863.1:c.4573_4582delGGAATCAGCC NP_001394792.1:p.Gly1525Serfs frameshift NM_001407874.1:c.4492_4501delGGAATCAGCC NP_001394803.1:p.Gly1498Serfs frameshift NM_001407875.1:c.4492_4501delGGAATCAGCC NP_001394804.1:p.Gly1498Serfs frameshift NM_001407879.1:c.4489_4498delGGAATCAGCC NP_001394808.1:p.Gly1497Serfs frameshift NM_001407881.1:c.4489_4498delGGAATCAGCC NP_001394810.1:p.Gly1497Serfs frameshift NM_001407882.1:c.4489_4498delGGAATCAGCC NP_001394811.1:p.Gly1497Serfs frameshift NM_001407884.1:c.4489_4498delGGAATCAGCC NP_001394813.1:p.Gly1497Serfs frameshift NM_001407885.1:c.4489_4498delGGAATCAGCC NP_001394814.1:p.Gly1497Serfs frameshift NM_001407886.1:c.4489_4498delGGAATCAGCC NP_001394815.1:p.Gly1497Serfs frameshift NM_001407887.1:c.4489_4498delGGAATCAGCC NP_001394816.1:p.Gly1497Serfs frameshift NM_001407889.1:c.4489_4498delGGAATCAGCC NP_001394818.1:p.Gly1497Serfs frameshift NM_001407894.1:c.4486_4495delGGAATCAGCC NP_001394823.1:p.Gly1496Serfs frameshift NM_001407895.1:c.4486_4495delGGAATCAGCC NP_001394824.1:p.Gly1496Serfs frameshift NM_001407896.1:c.4486_4495delGGAATCAGCC NP_001394825.1:p.Gly1496Serfs frameshift NM_001407897.1:c.4486_4495delGGAATCAGCC NP_001394826.1:p.Gly1496Serfs frameshift NM_001407898.1:c.4486_4495delGGAATCAGCC NP_001394827.1:p.Gly1496Serfs frameshift NM_001407899.1:c.4486_4495delGGAATCAGCC NP_001394828.1:p.Gly1496Serfs frameshift NM_001407900.1:c.4486_4495delGGAATCAGCC NP_001394829.1:p.Gly1496Serfs frameshift NM_001407902.1:c.4486_4495delGGAATCAGCC NP_001394831.1:p.Gly1496Serfs frameshift NM_001407904.1:c.4486_4495delGGAATCAGCC NP_001394833.1:p.Gly1496Serfs frameshift NM_001407906.1:c.4486_4495delGGAATCAGCC NP_001394835.1:p.Gly1496Serfs frameshift NM_001407907.1:c.4486_4495delGGAATCAGCC NP_001394836.1:p.Gly1496Serfs frameshift NM_001407908.1:c.4486_4495delGGAATCAGCC NP_001394837.1:p.Gly1496Serfs frameshift NM_001407909.1:c.4486_4495delGGAATCAGCC NP_001394838.1:p.Gly1496Serfs frameshift NM_001407910.1:c.4486_4495delGGAATCAGCC NP_001394839.1:p.Gly1496Serfs frameshift NM_001407915.1:c.4483_4492delGGAATCAGCC NP_001394844.1:p.Gly1495Serfs frameshift NM_001407916.1:c.4483_4492delGGAATCAGCC NP_001394845.1:p.Gly1495Serfs frameshift NM_001407917.1:c.4483_4492delGGAATCAGCC NP_001394846.1:p.Gly1495Serfs frameshift NM_001407918.1:c.4483_4492delGGAATCAGCC NP_001394847.1:p.Gly1495Serfs frameshift NM_001407919.1:c.4576_4585delGGAATCAGCC NP_001394848.1:p.Gly1526Serfs frameshift NM_001407920.1:c.4435_4444delGGAATCAGCC NP_001394849.1:p.Gly1479Serfs frameshift NM_001407921.1:c.4435_4444delGGAATCAGCC NP_001394850.1:p.Gly1479Serfs frameshift NM_001407922.1:c.4435_4444delGGAATCAGCC NP_001394851.1:p.Gly1479Serfs frameshift NM_001407923.1:c.4435_4444delGGAATCAGCC NP_001394852.1:p.Gly1479Serfs frameshift NM_001407924.1:c.4435_4444delGGAATCAGCC NP_001394853.1:p.Gly1479Serfs frameshift NM_001407925.1:c.4435_4444delGGAATCAGCC NP_001394854.1:p.Gly1479Serfs frameshift NM_001407926.1:c.4435_4444delGGAATCAGCC NP_001394855.1:p.Gly1479Serfs frameshift NM_001407927.1:c.4432_4441delGGAATCAGCC NP_001394856.1:p.Gly1478Serfs frameshift NM_001407928.1:c.4432_4441delGGAATCAGCC NP_001394857.1:p.Gly1478Serfs frameshift NM_001407929.1:c.4432_4441delGGAATCAGCC NP_001394858.1:p.Gly1478Serfs frameshift NM_001407930.1:c.4432_4441delGGAATCAGCC NP_001394859.1:p.Gly1478Serfs frameshift NM_001407931.1:c.4432_4441delGGAATCAGCC NP_001394860.1:p.Gly1478Serfs frameshift NM_001407932.1:c.4432_4441delGGAATCAGCC NP_001394861.1:p.Gly1478Serfs frameshift NM_001407933.1:c.4432_4441delGGAATCAGCC NP_001394862.1:p.Gly1478Serfs frameshift NM_001407934.1:c.4429_4438delGGAATCAGCC NP_001394863.1:p.Gly1477Serfs frameshift NM_001407935.1:c.4429_4438delGGAATCAGCC NP_001394864.1:p.Gly1477Serfs frameshift NM_001407936.1:c.4429_4438delGGAATCAGCC NP_001394865.1:p.Gly1477Serfs frameshift NM_001407937.1:c.4576_4585delGGAATCAGCC NP_001394866.1:p.Gly1526Serfs frameshift NM_001407938.1:c.4576_4585delGGAATCAGCC NP_001394867.1:p.Gly1526Serfs frameshift NM_001407939.1:c.4573_4582delGGAATCAGCC NP_001394868.1:p.Gly1525Serfs frameshift NM_001407940.1:c.4573_4582delGGAATCAGCC NP_001394869.1:p.Gly1525Serfs frameshift NM_001407941.1:c.4570_4579delGGAATCAGCC NP_001394870.1:p.Gly1524Serfs frameshift NM_001407942.1:c.4558_4567delGGAATCAGCC NP_001394871.1:p.Gly1520Serfs frameshift NM_001407943.1:c.4555_4564delGGAATCAGCC NP_001394872.1:p.Gly1519Serfs frameshift NM_001407944.1:c.4555_4564delGGAATCAGCC NP_001394873.1:p.Gly1519Serfs frameshift NM_001407945.1:c.4555_4564delGGAATCAGCC NP_001394874.1:p.Gly1519Serfs frameshift NM_001407946.1:c.4366_4375delGGAATCAGCC NP_001394875.1:p.Gly1456Serfs frameshift NM_001407947.1:c.4366_4375delGGAATCAGCC NP_001394876.1:p.Gly1456Serfs frameshift NM_001407948.1:c.4366_4375delGGAATCAGCC NP_001394877.1:p.Gly1456Serfs frameshift NM_001407949.1:c.4366_4375delGGAATCAGCC NP_001394878.1:p.Gly1456Serfs frameshift NM_001407950.1:c.4363_4372delGGAATCAGCC NP_001394879.1:p.Gly1455Serfs frameshift NM_001407951.1:c.4363_4372delGGAATCAGCC NP_001394880.1:p.Gly1455Serfs frameshift NM_001407952.1:c.4363_4372delGGAATCAGCC NP_001394881.1:p.Gly1455Serfs frameshift NM_001407953.1:c.4363_4372delGGAATCAGCC NP_001394882.1:p.Gly1455Serfs frameshift NM_001407954.1:c.4363_4372delGGAATCAGCC NP_001394883.1:p.Gly1455Serfs frameshift NM_001407955.1:c.4363_4372delGGAATCAGCC NP_001394884.1:p.Gly1455Serfs frameshift NM_001407956.1:c.4360_4369delGGAATCAGCC NP_001394885.1:p.Gly1454Serfs frameshift NM_001407957.1:c.4360_4369delGGAATCAGCC NP_001394886.1:p.Gly1454Serfs frameshift NM_001407958.1:c.4360_4369delGGAATCAGCC NP_001394887.1:p.Gly1454Serfs frameshift NM_001407959.1:c.4318_4327delGGAATCAGCC NP_001394888.1:p.Gly1440Serfs frameshift NM_001407960.1:c.4315_4324delGGAATCAGCC NP_001394889.1:p.Gly1439Serfs frameshift NM_001407962.1:c.4315_4324delGGAATCAGCC NP_001394891.1:p.Gly1439Serfs frameshift NM_001407963.1:c.4312_4321delGGAATCAGCC NP_001394892.1:p.Gly1438Serfs frameshift NM_001407964.1:c.4237_4246delGGAATCAGCC NP_001394893.1:p.Gly1413Serfs frameshift NM_001407965.1:c.4192_4201delGGAATCAGCC NP_001394894.1:p.Gly1398Serfs frameshift NM_001407966.1:c.3811_3820delGGAATCAGCC NP_001394895.1:p.Gly1271Serfs frameshift NM_001407967.1:c.3808_3817delGGAATCAGCC NP_001394896.1:p.Gly1270Serfs frameshift NM_001407968.1:c.2095_2104delGGAATCAGCC NP_001394897.1:p.Gly699Serfs frameshift NM_001407969.1:c.2092_2101delGGAATCAGCC NP_001394898.1:p.Gly698Serfs frameshift NM_001407970.1:c.1456_1465delGGAATCAGCC NP_001394899.1:p.Gly486Serfs frameshift NM_001407971.1:c.1456_1465delGGAATCAGCC NP_001394900.1:p.Gly486Serfs frameshift NM_001407972.1:c.1453_1462delGGAATCAGCC NP_001394901.1:p.Gly485Serfs frameshift NM_001407973.1:c.1390_1399delGGAATCAGCC NP_001394902.1:p.Gly464Serfs frameshift NM_001407974.1:c.1390_1399delGGAATCAGCC NP_001394903.1:p.Gly464Serfs frameshift NM_001407975.1:c.1390_1399delGGAATCAGCC NP_001394904.1:p.Gly464Serfs frameshift NM_001407976.1:c.1390_1399delGGAATCAGCC NP_001394905.1:p.Gly464Serfs frameshift NM_001407977.1:c.1390_1399delGGAATCAGCC NP_001394906.1:p.Gly464Serfs frameshift NM_001407978.1:c.1390_1399delGGAATCAGCC NP_001394907.1:p.Gly464Serfs frameshift NM_001407979.1:c.1387_1396delGGAATCAGCC NP_001394908.1:p.Gly463Serfs frameshift NM_001407980.1:c.1387_1396delGGAATCAGCC NP_001394909.1:p.Gly463Serfs frameshift NM_001407981.1:c.1387_1396delGGAATCAGCC NP_001394910.1:p.Gly463Serfs frameshift NM_001407982.1:c.1387_1396delGGAATCAGCC NP_001394911.1:p.Gly463Serfs frameshift NM_001407983.1:c.1387_1396delGGAATCAGCC NP_001394912.1:p.Gly463Serfs frameshift NM_001407984.1:c.1387_1396delGGAATCAGCC NP_001394913.1:p.Gly463Serfs frameshift NM_001407985.1:c.1387_1396delGGAATCAGCC NP_001394914.1:p.Gly463Serfs frameshift NM_001407986.1:c.1387_1396delGGAATCAGCC NP_001394915.1:p.Gly463Serfs frameshift NM_001407990.1:c.1387_1396delGGAATCAGCC NP_001394919.1:p.Gly463Serfs frameshift NM_001407991.1:c.1387_1396delGGAATCAGCC NP_001394920.1:p.Gly463Serfs frameshift NM_001407992.1:c.1387_1396delGGAATCAGCC NP_001394921.1:p.Gly463Serfs frameshift NM_001407993.1:c.1387_1396delGGAATCAGCC NP_001394922.1:p.Gly463Serfs frameshift NM_001408392.1:c.1384_1393delGGAATCAGCC NP_001395321.1:p.Gly462Serfs frameshift NM_001408396.1:c.1384_1393delGGAATCAGCC NP_001395325.1:p.Gly462Serfs frameshift NM_001408397.1:c.1384_1393delGGAATCAGCC NP_001395326.1:p.Gly462Serfs frameshift NM_001408398.1:c.1384_1393delGGAATCAGCC NP_001395327.1:p.Gly462Serfs frameshift NM_001408399.1:c.1384_1393delGGAATCAGCC NP_001395328.1:p.Gly462Serfs frameshift NM_001408400.1:c.1384_1393delGGAATCAGCC NP_001395329.1:p.Gly462Serfs frameshift NM_001408401.1:c.1384_1393delGGAATCAGCC NP_001395330.1:p.Gly462Serfs frameshift NM_001408402.1:c.1384_1393delGGAATCAGCC NP_001395331.1:p.Gly462Serfs frameshift NM_001408403.1:c.1384_1393delGGAATCAGCC NP_001395332.1:p.Gly462Serfs frameshift NM_001408404.1:c.1384_1393delGGAATCAGCC NP_001395333.1:p.Gly462Serfs frameshift NM_001408406.1:c.1381_1390delGGAATCAGCC NP_001395335.1:p.Gly461Serfs frameshift NM_001408407.1:c.1381_1390delGGAATCAGCC NP_001395336.1:p.Gly461Serfs frameshift NM_001408408.1:c.1381_1390delGGAATCAGCC NP_001395337.1:p.Gly461Serfs frameshift NM_001408409.1:c.1378_1387delGGAATCAGCC NP_001395338.1:p.Gly460Serfs frameshift NM_001408410.1:c.1315_1324delGGAATCAGCC NP_001395339.1:p.Gly439Serfs frameshift NM_001408411.1:c.1312_1321delGGAATCAGCC NP_001395340.1:p.Gly438Serfs frameshift NM_001408412.1:c.1309_1318delGGAATCAGCC NP_001395341.1:p.Gly437Serfs frameshift NM_001408413.1:c.1309_1318delGGAATCAGCC NP_001395342.1:p.Gly437Serfs frameshift NM_001408414.1:c.1309_1318delGGAATCAGCC NP_001395343.1:p.Gly437Serfs frameshift NM_001408415.1:c.1309_1318delGGAATCAGCC NP_001395344.1:p.Gly437Serfs frameshift NM_001408416.1:c.1309_1318delGGAATCAGCC NP_001395345.1:p.Gly437Serfs frameshift NM_001408418.1:c.1273_1282delGGAATCAGCC NP_001395347.1:p.Gly425Serfs frameshift NM_001408419.1:c.1273_1282delGGAATCAGCC NP_001395348.1:p.Gly425Serfs frameshift NM_001408420.1:c.1273_1282delGGAATCAGCC NP_001395349.1:p.Gly425Serfs frameshift NM_001408421.1:c.1270_1279delGGAATCAGCC NP_001395350.1:p.Gly424Serfs frameshift NM_001408422.1:c.1270_1279delGGAATCAGCC NP_001395351.1:p.Gly424Serfs frameshift NM_001408423.1:c.1270_1279delGGAATCAGCC NP_001395352.1:p.Gly424Serfs frameshift NM_001408424.1:c.1270_1279delGGAATCAGCC NP_001395353.1:p.Gly424Serfs frameshift NM_001408425.1:c.1267_1276delGGAATCAGCC NP_001395354.1:p.Gly423Serfs frameshift NM_001408426.1:c.1267_1276delGGAATCAGCC NP_001395355.1:p.Gly423Serfs frameshift NM_001408427.1:c.1267_1276delGGAATCAGCC NP_001395356.1:p.Gly423Serfs frameshift NM_001408428.1:c.1267_1276delGGAATCAGCC NP_001395357.1:p.Gly423Serfs frameshift NM_001408429.1:c.1267_1276delGGAATCAGCC NP_001395358.1:p.Gly423Serfs frameshift NM_001408430.1:c.1267_1276delGGAATCAGCC NP_001395359.1:p.Gly423Serfs frameshift NM_001408431.1:c.1267_1276delGGAATCAGCC NP_001395360.1:p.Gly423Serfs frameshift NM_001408432.1:c.1264_1273delGGAATCAGCC NP_001395361.1:p.Gly422Serfs frameshift NM_001408433.1:c.1264_1273delGGAATCAGCC NP_001395362.1:p.Gly422Serfs frameshift NM_001408434.1:c.1264_1273delGGAATCAGCC NP_001395363.1:p.Gly422Serfs frameshift NM_001408435.1:c.1264_1273delGGAATCAGCC NP_001395364.1:p.Gly422Serfs frameshift NM_001408436.1:c.1264_1273delGGAATCAGCC NP_001395365.1:p.Gly422Serfs frameshift NM_001408437.1:c.1264_1273delGGAATCAGCC NP_001395366.1:p.Gly422Serfs frameshift NM_001408438.1:c.1264_1273delGGAATCAGCC NP_001395367.1:p.Gly422Serfs frameshift NM_001408439.1:c.1264_1273delGGAATCAGCC NP_001395368.1:p.Gly422Serfs frameshift NM_001408440.1:c.1264_1273delGGAATCAGCC NP_001395369.1:p.Gly422Serfs frameshift NM_001408441.1:c.1264_1273delGGAATCAGCC NP_001395370.1:p.Gly422Serfs frameshift NM_001408442.1:c.1264_1273delGGAATCAGCC NP_001395371.1:p.Gly422Serfs frameshift NM_001408443.1:c.1264_1273delGGAATCAGCC NP_001395372.1:p.Gly422Serfs frameshift NM_001408444.1:c.1264_1273delGGAATCAGCC NP_001395373.1:p.Gly422Serfs frameshift NM_001408445.1:c.1261_1270delGGAATCAGCC NP_001395374.1:p.Gly421Serfs frameshift NM_001408446.1:c.1261_1270delGGAATCAGCC NP_001395375.1:p.Gly421Serfs frameshift NM_001408447.1:c.1261_1270delGGAATCAGCC NP_001395376.1:p.Gly421Serfs frameshift NM_001408448.1:c.1261_1270delGGAATCAGCC NP_001395377.1:p.Gly421Serfs frameshift NM_001408450.1:c.1261_1270delGGAATCAGCC NP_001395379.1:p.Gly421Serfs frameshift NM_001408451.1:c.1255_1264delGGAATCAGCC NP_001395380.1:p.Gly419Serfs frameshift NM_001408452.1:c.1249_1258delGGAATCAGCC NP_001395381.1:p.Gly417Serfs frameshift NM_001408453.1:c.1249_1258delGGAATCAGCC NP_001395382.1:p.Gly417Serfs frameshift NM_001408454.1:c.1249_1258delGGAATCAGCC NP_001395383.1:p.Gly417Serfs frameshift NM_001408455.1:c.1249_1258delGGAATCAGCC NP_001395384.1:p.Gly417Serfs frameshift NM_001408456.1:c.1249_1258delGGAATCAGCC NP_001395385.1:p.Gly417Serfs frameshift NM_001408457.1:c.1249_1258delGGAATCAGCC NP_001395386.1:p.Gly417Serfs frameshift NM_001408458.1:c.1246_1255delGGAATCAGCC NP_001395387.1:p.Gly416Serfs frameshift NM_001408459.1:c.1246_1255delGGAATCAGCC NP_001395388.1:p.Gly416Serfs frameshift NM_001408460.1:c.1246_1255delGGAATCAGCC NP_001395389.1:p.Gly416Serfs frameshift NM_001408461.1:c.1246_1255delGGAATCAGCC NP_001395390.1:p.Gly416Serfs frameshift NM_001408462.1:c.1246_1255delGGAATCAGCC NP_001395391.1:p.Gly416Serfs frameshift NM_001408463.1:c.1246_1255delGGAATCAGCC NP_001395392.1:p.Gly416Serfs frameshift NM_001408464.1:c.1246_1255delGGAATCAGCC NP_001395393.1:p.Gly416Serfs frameshift NM_001408465.1:c.1246_1255delGGAATCAGCC NP_001395394.1:p.Gly416Serfs frameshift NM_001408466.1:c.1246_1255delGGAATCAGCC NP_001395395.1:p.Gly416Serfs frameshift NM_001408467.1:c.1246_1255delGGAATCAGCC NP_001395396.1:p.Gly416Serfs frameshift NM_001408468.1:c.1243_1252delGGAATCAGCC NP_001395397.1:p.Gly415Serfs frameshift NM_001408469.1:c.1243_1252delGGAATCAGCC NP_001395398.1:p.Gly415Serfs frameshift NM_001408470.1:c.1243_1252delGGAATCAGCC NP_001395399.1:p.Gly415Serfs frameshift NM_001408472.1:c.1387_1396delGGAATCAGCC NP_001395401.1:p.Gly463Serfs frameshift NM_001408473.1:c.1384_1393delGGAATCAGCC NP_001395402.1:p.Gly462Serfs frameshift NM_001408474.1:c.1189_1198delGGAATCAGCC NP_001395403.1:p.Gly397Serfs frameshift NM_001408475.1:c.1186_1195delGGAATCAGCC NP_001395404.1:p.Gly396Serfs frameshift NM_001408476.1:c.1186_1195delGGAATCAGCC NP_001395405.1:p.Gly396Serfs frameshift NM_001408478.1:c.1180_1189delGGAATCAGCC NP_001395407.1:p.Gly394Serfs frameshift NM_001408479.1:c.1180_1189delGGAATCAGCC NP_001395408.1:p.Gly394Serfs frameshift NM_001408480.1:c.1180_1189delGGAATCAGCC NP_001395409.1:p.Gly394Serfs frameshift NM_001408481.1:c.1177_1186delGGAATCAGCC NP_001395410.1:p.Gly393Serfs frameshift NM_001408482.1:c.1177_1186delGGAATCAGCC NP_001395411.1:p.Gly393Serfs frameshift NM_001408483.1:c.1177_1186delGGAATCAGCC NP_001395412.1:p.Gly393Serfs frameshift NM_001408484.1:c.1177_1186delGGAATCAGCC NP_001395413.1:p.Gly393Serfs frameshift NM_001408485.1:c.1177_1186delGGAATCAGCC NP_001395414.1:p.Gly393Serfs frameshift NM_001408489.1:c.1177_1186delGGAATCAGCC NP_001395418.1:p.Gly393Serfs frameshift NM_001408490.1:c.1177_1186delGGAATCAGCC NP_001395419.1:p.Gly393Serfs frameshift NM_001408491.1:c.1177_1186delGGAATCAGCC NP_001395420.1:p.Gly393Serfs frameshift NM_001408492.1:c.1174_1183delGGAATCAGCC NP_001395421.1:p.Gly392Serfs frameshift NM_001408493.1:c.1174_1183delGGAATCAGCC NP_001395422.1:p.Gly392Serfs frameshift NM_001408494.1:c.1150_1159delGGAATCAGCC NP_001395423.1:p.Gly384Serfs frameshift NM_001408495.1:c.1144_1153delGGAATCAGCC NP_001395424.1:p.Gly382Serfs frameshift NM_001408496.1:c.1126_1135delGGAATCAGCC NP_001395425.1:p.Gly376Serfs frameshift NM_001408497.1:c.1126_1135delGGAATCAGCC NP_001395426.1:p.Gly376Serfs frameshift NM_001408498.1:c.1126_1135delGGAATCAGCC NP_001395427.1:p.Gly376Serfs frameshift NM_001408499.1:c.1126_1135delGGAATCAGCC NP_001395428.1:p.Gly376Serfs frameshift NM_001408500.1:c.1126_1135delGGAATCAGCC NP_001395429.1:p.Gly376Serfs frameshift NM_001408501.1:c.1126_1135delGGAATCAGCC NP_001395430.1:p.Gly376Serfs frameshift NM_001408502.1:c.1123_1132delGGAATCAGCC NP_001395431.1:p.Gly375Serfs frameshift NM_001408503.1:c.1123_1132delGGAATCAGCC NP_001395432.1:p.Gly375Serfs frameshift NM_001408504.1:c.1123_1132delGGAATCAGCC NP_001395433.1:p.Gly375Serfs frameshift NM_001408505.1:c.1120_1129delGGAATCAGCC NP_001395434.1:p.Gly374Serfs frameshift NM_001408506.1:c.1063_1072delGGAATCAGCC NP_001395435.1:p.Gly355Serfs frameshift NM_001408507.1:c.1060_1069delGGAATCAGCC NP_001395436.1:p.Gly354Serfs frameshift NM_001408508.1:c.1051_1060delGGAATCAGCC NP_001395437.1:p.Gly351Serfs frameshift NM_001408509.1:c.1048_1057delGGAATCAGCC NP_001395438.1:p.Gly350Serfs frameshift NM_001408510.1:c.1009_1018delGGAATCAGCC NP_001395439.1:p.Gly337Serfs frameshift NM_001408511.1:c.1006_1015delGGAATCAGCC NP_001395440.1:p.Gly336Serfs frameshift NM_001408512.1:c.886_895delGGAATCAGCC NP_001395441.1:p.Gly296Serfs frameshift NM_001408513.1:c.859_868delGGAATCAGCC NP_001395442.1:p.Gly287Serfs frameshift NM_007294.3:c.4699_4708delGGAATCAGCC NP_009225.1:p.Gly1567Serfs frameshift NM_007297.4:c.4558_4567del NP_009228.2:p.Gly1520fs frameshift NM_007298.4:c.1387_1396delGGAATCAGCC NP_009229.2:p.Gly463Serfs frameshift NM_007299.4:c.1387_1396del NP_009230.2:p.Gly463fs frameshift NM_007300.4:c.4762_4771del NP_009231.2:p.Gly1588fs frameshift NM_007304.2:c.1387_1396delGGAATCAGCC NP_009235.2:p.Gly463Serfs frameshift NR_027676.2:n.4876_4885del non-coding transcript variant NC_000017.11:g.43071206_43071215del NC_000017.10:g.41223223_41223232del NG_005905.2:g.146769_146778del LRG_292:g.146769_146778del LRG_292t1:c.4699_4708del LRG_292p1:p.Gly1567fs - Protein change
- G1588fs, G1520fs, G1567fs, G463fs
- Other names
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4818 del10 1597X
- Canonical SPDI
- NC_000017.11:43071205:GGCTGATTCC:
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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. |
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| 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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (2) |
reviewed by expert panel
|
Oct 18, 2016 | RCV000257408.6 |
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: SCV000323788.2
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: SCV000328433.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040244 ...
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.