ClinVar Miner

Submissions for variant NM_002875.5(RAD51):c.449G>A (p.Arg150Gln)

gnomAD frequency: 0.00171  dbSNP: rs121917739
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000889052 SCV001032711 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Mendelics RCV003492294 SCV001139555 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
H3Africa Consortium RCV001777137 SCV002014656 benign not specified 2020-10-28 criteria provided, single submitter research While the frequency of the alternate allele in gnoMAD v2.0.2 is 0.052, its frequency in African populations is >5%. This suggests that previous classifications of this variant as pathogenic are in error.
GeneDx RCV000889052 SCV002032718 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing Observed in individuals with breast cancer but also in controls (Kato 2000, Le Calvez-Kelm 2012, Ding 2018, Shin 2020); Published functional studies are inconclusive: retention of polymer formation, decreased single strand and double strand DNA binding activities, and conflicting ATP-hydrolyzing activity (Ishida 2007, Chen 2015); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17666788, 10807537, 25539919, 23300655, 28864920, 27153395, 16762046, 32019277, 30271574, 31589614)
Genetic Services Laboratory, University of Chicago RCV001777137 SCV002069109 likely benign not specified 2018-03-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541001 SCV004761412 likely benign RAD51-related disorder 2020-04-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000014007 SCV000034254 pathogenic Familial cancer of breast 2000-01-01 no assertion criteria provided literature only

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