ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5051C>G (p.Thr1684Ser)

gnomAD frequency: 0.00002  dbSNP: rs80358729
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV003156781 SCV003846956 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).
Breast Cancer Information Core (BIC) (BRCA2) RCV000113371 SCV000146526 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2003-12-23 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496558 SCV000587739 uncertain significance not specified 2014-01-31 no assertion criteria provided research
BRCAlab, Lund University RCV000113371 SCV004243647 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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