ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1794A>G (p.Thr598=)

gnomAD frequency: 0.00001  dbSNP: rs1159099773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546984 SCV000635178 likely benign Hereditary breast ovarian cancer syndrome 2024-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569367 SCV000666075 likely benign Hereditary cancer-predisposing syndrome 2016-07-13 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 RCV003235279 SCV003933380 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; Also known as 2022A>G
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003235279 SCV004219522 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004802133 SCV005424299 likely benign BRCA2-related cancer predisposition 2024-03-05 criteria provided, single submitter clinical testing

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