ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.39C>G (p.Thr13=) (rs146448657)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164140 SCV000214756 likely benign Hereditary cancer-predisposing syndrome 2014-09-02 criteria provided, single submitter clinical testing
Invitae RCV000989840 SCV000287710 likely benign Breast-ovarian cancer, familial 4 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000436584 SCV000514353 likely benign not specified 2017-12-06 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 RCV000164140 SCV000691337 likely benign Hereditary cancer-predisposing syndrome 2015-10-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589703 SCV000698101 likely benign not provided 2016-10-28 criteria provided, single submitter clinical testing Variant summary: The RAD51D c.39C>G (p.Thr13Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 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 9/119710 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0008858 (9/10160). This frequency is about 7 times the estimated maximal expected allele frequency of a pathogenic RAD51D variant (0.000125), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as probably benign until more information becomes available.
Mendelics RCV000989840 SCV001140430 likely benign Breast-ovarian cancer, familial 4 2019-05-28 criteria provided, single submitter clinical testing

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