ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.649_655delinsTGAGGTT (p.Gly217_Gln219delinsTer) (rs587781527)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129520 SCV000184296 pathogenic Hereditary cancer-predisposing syndrome 2015-05-16 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 RCV000559627 SCV000651767 pathogenic Breast-ovarian cancer, familial 4 2018-03-04 criteria provided, single submitter clinical testing This sequence change is a complex variant in exon 7 of the RAD51D mRNA (c.649_655delinsTGAGGTT). This creates a premature translational stop signal (p.Gly217*) and is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775365939, ExAC 0.001%). This variant has been reported in the literature in an individual affected with ovarian cancer (PMID: 26261251). ClinVar contains an entry for this variant (Variation ID: 141143). Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic.

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