ClinVar Miner

Submissions for variant NM_002878.4(RAD51D):c.666A>G (p.Glu222=)

gnomAD frequency: 0.00131  dbSNP: rs114012742
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212964 SCV000211648 benign not specified 2014-08-06 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.
Ambry Genetics RCV000160941 SCV000213853 likely benign Hereditary cancer-predisposing syndrome 2019-10-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000206447 SCV000262143 benign Breast-ovarian cancer, familial, susceptibility to, 4 2025-02-03 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000212964 SCV000333809 likely benign not specified 2015-09-11 criteria provided, single submitter clinical testing
Counsyl RCV000206447 SCV000488960 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2016-07-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477578 SCV000602164 benign not provided 2022-10-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000160941 SCV000686478 benign Hereditary cancer-predisposing syndrome 2015-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000212964 SCV000806581 benign not specified 2017-06-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000206447 SCV002049212 likely benign Breast-ovarian cancer, familial, susceptibility to, 4 2021-04-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000160941 SCV002534842 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000206447 SCV004017726 benign Breast-ovarian cancer, familial, susceptibility to, 4 2023-04-06 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000212964 SCV004242784 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV004794367 SCV005415592 likely benign Hereditary breast ovarian cancer syndrome 2024-10-15 criteria provided, single submitter clinical testing The synonymous variant NM_002878.4(RAD51D):c.666A>G (p.Glu222=) has been reported to ClinVar as Benign/Likely benign with a status of (2 stars) criteria provided, multiple submitters, no conflicts (Variation ID 182852 as of 2024-10-03). The p.Glu222= variant is observed in 80/16,256 (0.4921%) alleles from individuals of gnomAD African background in gnomAD, which is greater than expected for the disorder. The p.Glu222= variant is not predicted to disrupt the existing donor splice site 2bp upstream by any splice site algorithm. The p.Glu222= variant results in a substitution of a base that is not predicted conserved by GERP++ and PhyloP. For these reasons, this variant has been classified as Likely Benign.
True Health Diagnostics RCV000160941 SCV000788207 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000212964 SCV003839942 likely benign not specified 2022-07-28 no assertion criteria provided clinical testing

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