ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.357_360del (p.Cys119fs) (rs876658297)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221453 SCV000273334 pathogenic Hereditary cancer-predisposing syndrome 2018-01-11 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)
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785235 SCV000923803 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Invitae RCV000552108 SCV000651738 pathogenic Breast-ovarian cancer, familial 4 2018-12-30 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotide from exon 5 of the RAD51D mRNA (c.357_360delTATG), causing a frameshift at codon 119. This creates a premature translational stop signal (p.Cys119Trpfs*16) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51D are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with breast cancer (PMID: 26822949). This variant is also known as c.355_358delTGTA in the literature. For these reasons, this variant has been classified as Pathogenic.

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