ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.873C>T (p.Arg291=) (rs140848654)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212973 SCV000171278 benign not specified 2014-01-09 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 RCV000127699 SCV000213971 likely benign Hereditary cancer-predisposing syndrome 2014-07-22 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.
Invitae RCV000204704 SCV000262502 benign Breast-ovarian cancer, familial 4 2020-12-01 criteria provided, single submitter clinical testing
Counsyl RCV000204704 SCV000488521 benign Breast-ovarian cancer, familial 4 2016-05-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212973 SCV000602168 likely benign not specified 2017-02-16 criteria provided, single submitter clinical testing
Color Health, Inc RCV000127699 SCV000686494 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212973 SCV000806590 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756585 SCV000884440 benign not provided 2018-01-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000756585 SCV000888613 benign not provided 2018-04-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356097 SCV001551166 likely benign Malignant tumor of breast no assertion criteria provided clinical testing The RAD51D p.Arg291= variant was not identified in the literature nor was it identified in the Cosmic and Zhejiang Colon Cancer Database. The variant was also identified in dbSNP (ID: rs140848654) “With Likely benign allele”, ClinVar (classified benign by GeneDx, Invitae, Counsyl; and likely benign by Ambry Genetics, Illumina), Clinvitae (4X) and in control databases in 325 (2 homozygous) of 277174 chromosomes at a frequency of 0.001 increasing the likelihood this could be a low frequency benign variant (Genome Aggregation Consortium Feb 27, 2017), being identified in the following populations: African in 301 (2 homozygous) of 24032 chromosomes (frequency: 0.01), Other in 3 of 6460 chromosomes (frequency: 0005), Latino in 17 of 34418 chromosomes (frequency: 0.0005), European Non-Finnish in 4 of 126672 chromosomes (frequency: 00003). The p.Arg291= 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 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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