ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.81del (p.Val28fs) (rs1064793952)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574135 SCV000663817 pathogenic Hereditary cancer-predisposing syndrome 2017-01-11 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)
Counsyl RCV000649689 SCV000785736 likely pathogenic Breast-ovarian cancer, familial 4 2017-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000485671 SCV000567444 pathogenic not provided 2015-07-24 criteria provided, single submitter clinical testing This deletion of one nucleotide in RAD51D is denoted c.81delA at the cDNA level and p.Val28TrpfsX12 (V28WfsX12) at the protein level. The normal sequence, with the base that is deleted in braces, is AGAC[A]GGTG. The deletion causes a frameshift, which changes a Valine to a Tryptophan at codon 28, and creates a premature stop codon at position 12 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Invitae RCV000649689 SCV000771521 pathogenic Breast-ovarian cancer, familial 4 2018-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val28Trpfs*12) in the RAD51D 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 been reported in an individual affected with ovarian cancer (PMID: 26720728). ClinVar contains an entry for this variant (Variation ID: 419558). 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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