ClinVar Miner

Submissions for variant NM_001142571.2(RAD51D):c.960A>G (p.Arg320=) (rs370634278)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164714 SCV000215384 likely benign Hereditary cancer-predisposing syndrome 2014-06-13 criteria provided, single submitter clinical testing
Invitae RCV000989830 SCV000261400 likely benign Breast-ovarian cancer, familial 4 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000423540 SCV000522486 likely benign not specified 2018-01-31 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.
Color RCV000164714 SCV000686496 likely benign Hereditary cancer-predisposing syndrome 2016-11-12 criteria provided, single submitter clinical testing
Mendelics RCV000989830 SCV001140406 likely benign Breast-ovarian cancer, familial 4 2019-05-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000423540 SCV001363866 likely benign not specified 2019-03-28 criteria provided, single submitter clinical testing Variant summary: RAD51D c.900A>G alters a non-conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.4e-05 in 249236 control chromosomes (gnomAD and publications). This frequency is near the estimated maximal expected allele frequency of a pathogenic RAD51D variant (0.00013), suggesting this is likely a benign polymorphism. The variant was also reported in the FLOSSIES database in a woman older than age 70 years who has never had cancer. To our knowledge, no occurrence of c.900A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
True Health Diagnostics RCV000164714 SCV000788210 likely benign Hereditary cancer-predisposing syndrome 2018-02-05 no assertion criteria provided clinical testing

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