ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7547C>T (p.Ser2516Phe) (rs571800995)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217254 SCV000277114 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
Color RCV000217254 SCV000906556 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-12 criteria provided, single submitter clinical testing
Counsyl RCV000662938 SCV000785895 uncertain significance Breast-ovarian cancer, familial 2 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000697908 SCV000826542 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-05-30 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2516 of the BRCA2 protein (p.Ser2516Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs571800995, ExAC 0.04%). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 232863). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506211 SCV000600755 uncertain significance not specified 2016-10-10 criteria provided, single submitter clinical testing

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