ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1943del (p.Ser648fs) (rs876658660)

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Total submissions: 5
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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) RCV000238927 SCV000783878 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000214005 SCV000274202 pathogenic Hereditary cancer-predisposing syndrome 2016-10-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Invitae RCV000465511 SCV000549792 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser648Tyrfs*12) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 230600). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Color RCV000214005 SCV000683464 pathogenic Hereditary cancer-predisposing syndrome 2015-12-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000238927 SCV000297507 pathogenic Breast-ovarian cancer, familial 2 2010-07-20 no assertion criteria provided clinical testing

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