ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.521G>A (p.Arg174His)

gnomAD frequency: 0.00001  dbSNP: rs80358747
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000044616 SCV000072629 likely benign Hereditary breast ovarian cancer syndrome 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165821 SCV000216568 likely benign Hereditary cancer-predisposing syndrome 2023-12-12 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.
GeneDx RCV000427870 SCV000512332 likely benign not specified 2017-06-27 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 Diagnostics, LLC DBA Color Health RCV000165821 SCV000902941 likely benign Hereditary cancer-predisposing syndrome 2016-03-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985540 SCV001133821 uncertain significance not provided 2019-03-08 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165821 SCV002533934 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-03 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000083114 SCV000115188 benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083114 SCV000147063 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing

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