ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.864C>T (p.Gly288=) (rs138557828)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212971 SCV000211649 benign not specified 2014-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000160942 SCV000214172 likely benign Hereditary cancer-predisposing syndrome 2015-05-20 criteria provided, single submitter clinical testing
Invitae RCV001081814 SCV000551344 likely benign Breast-ovarian cancer, familial 4 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000160942 SCV000691375 likely benign Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679542 SCV000806589 uncertain significance not provided 2017-06-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000212971 SCV000920129 likely benign not specified 2017-09-19 criteria provided, single submitter clinical testing Variant summary: The RAD51D c.864C>T (p.Gly288Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. MutationTaster predicts a benign outcome for this variant. 3/5 splice prediction tools predict the addition of a cryptic splice site. ESE finder predicts that this variant may affect ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 24/278078 control chromosomes, predominantly observed in the European (Non-Finnish) subpopulation at a frequency of 0.000142 (18/126664). This frequency is slightly above the estimated maximal expected allele frequency of a pathogenic RAD51D variant (0.000125), suggesting this may be a benign polymorphism found primarily in the populations of European (Non-Finnish) origin. The variant has been reported in the literature in a control cohort but not in HBOC patients (Thompson_2013). Multiple clinical diagnostic laboratories have classified this variant with conflicting interpretations, including VUS (1), likely benign (1), and benign (1). Taken together, this variant is classified as "likely benign."
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679542 SCV001134807 likely benign not provided 2018-12-22 criteria provided, single submitter clinical testing

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