ClinVar Miner

Submissions for variant NM_058216.3(RAD51C):c.195A>G (p.Arg65=) (rs45511291)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129169 SCV000183902 benign Hereditary cancer-predisposing syndrome 2014-11-27 criteria provided, single submitter clinical testing
Color RCV000129169 SCV000686331 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Counsyl RCV000123371 SCV000489819 benign Fanconi anemia, complementation group O 2016-05-25 criteria provided, single submitter clinical testing
Counsyl RCV000411807 SCV000489820 benign Breast-ovarian cancer, familial 3 2016-05-25 criteria provided, single submitter clinical testing
GeneDx RCV000212935 SCV000171270 benign not specified 2014-03-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000336178 SCV000404321 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402152 SCV000404322 likely benign Breast and Ovarian Cancer Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588599 SCV000699798 benign not provided 2016-06-27 criteria provided, single submitter clinical testing Variant summary: The RAD51C c.195A>G (p.Arg65Arg) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 354/122132 control chromosomes (13 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.0396715 (343/8646). This frequency is about 635 times the estimated maximal expected allele frequency of a pathogenic RAD51C variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. This variant has been reported in HBOC families, without strong evidence for causality. In addition, multiple clinical diagnostic laboratories classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000123371 SCV000166694 benign Fanconi anemia, complementation group O 2018-01-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588599 SCV000888595 benign not provided 2017-09-04 criteria provided, single submitter clinical testing

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