ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.216C>T (p.Tyr72=) (rs148690585)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212956 SCV000171276 benign not specified 2014-02-24 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 RCV000127697 SCV000214933 likely benign Hereditary cancer-predisposing syndrome 2014-08-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000410416 SCV000488963 likely benign Breast-ovarian cancer, familial 4 2016-07-26 criteria provided, single submitter clinical testing
Invitae RCV000410416 SCV000561571 benign Breast-ovarian cancer, familial 4 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000212956 SCV000596690 likely benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212956 SCV000602154 likely benign not specified 2016-09-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000127697 SCV000686430 likely benign Hereditary cancer-predisposing syndrome 2015-11-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000212956 SCV001338597 likely benign not specified 2020-04-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354122 SCV001548661 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The RAD51D p.Tyr72= variant was not identified in the literature nor was it identified in Cosmic. The variant was identified in dbSNP (ID: rs148690585) “With other allele”, ClinVar (classified benign by GeneDx, Invitae; likely benign by Ambry Genetics, Counsyl, Genetic Services Laboratory (University of Chicago), Quest Diagnostics Nichols Institute San Juan Capistrano and Color Genomics), Clinvitae, and in control databases in 42 of 277194 chromosomes at a frequency of 0.0002 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Database Feb 27, 2017). Breakdown of the observations by population include African in 28 of 24030 chromosomes (freq: 0.001), European Non-Finnish in 3 of 126696 chromosomes (freq: 0.00002), and East Asian in 11 of 18868 chromosomes (freq: 0.0006), while not observed in the Other, Latino, Ashkenazi Jewish, European Finnish, and South Asian populations. The p.Tyr72= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

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