ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.326dup (p.Gly110fs) (rs730882119)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575464 SCV000663806 pathogenic Hereditary cancer-predisposing syndrome 2017-02-01 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 RCV000178184 SCV000677810 pathogenic Breast-ovarian cancer, familial 4 2017-05-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000160938 SCV000230199 pathogenic not provided 2015-05-07 criteria provided, single submitter clinical testing
GeneDx RCV000160938 SCV000211645 pathogenic not provided 2018-10-22 criteria provided, single submitter clinical testing This duplication of one nucleotide is denoted RAD51D c.326dupC at the cDNA level and p.Gly110ArgfsX2 (G110RfsX2) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GGCCC[dupC]AGGT. The duplication causes a frameshift, which changes a Glycine to an Arginine at codon 110, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. RAD51D c.326dupC has been identified in an individual with breast and/or ovarian cancer and in an individual with prostate cancer (Maxwell 2016, Pritchard 2016). We consider this variant to be pathogenic.
Invitae RCV000178184 SCV000651731 pathogenic Breast-ovarian cancer, familial 4 2018-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly110Argfs*2) 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 particular variant has been reported in an individual with breast and ovarian cancer (PMID: 27153395) and an individual with prostate cancer (PMID: 27433846). 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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