ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5428G>T (p.Val1810Phe)

dbSNP: rs80358766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343687 SCV001537686 uncertain significance Hereditary breast ovarian cancer syndrome 2020-07-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 22684231). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with phenylalanine at codon 1810 of the BRCA2 protein (p.Val1810Phe). The valine residue is weakly conserved and there is a small physicochemical difference between valine and phenylalanine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001762578 SCV002008800 uncertain significance not provided 2019-07-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28277317, 23697973, 22684231)
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) RCV002070216 SCV002320662 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV003158781 SCV003847239 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).

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