ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe)

dbSNP: rs80358403
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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 RCV001089032 SCV000071742 likely benign Hereditary breast ovarian cancer syndrome 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164099 SCV000214711 likely benign Hereditary cancer-predisposing syndrome 2019-02-26 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 RCV000034425 SCV000725811 likely benign not provided 2020-03-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22703879, 25348012)
Color Diagnostics, LLC DBA Color Health RCV000164099 SCV001355771 likely benign Hereditary cancer-predisposing syndrome 2019-04-02 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000164099 SCV003849787 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034425 SCV000043194 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000083084 SCV000115158 benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083084 SCV000145807 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1998-11-30 no assertion criteria provided clinical testing

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