ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1907C>G (p.Ser636Ter) (rs431825288)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000082893 SCV000300478 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000526079 SCV000635186 pathogenic Hereditary breast and ovarian cancer syndrome 2017-05-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 636 (p.Ser636*) of the BRCA2 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000082893 SCV000114967 likely pathogenic Breast-ovarian cancer, familial 2 2013-01-17 no assertion criteria provided clinical testing

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