ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8072C>T (p.Ser2691Phe) (rs80359047)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045414 SCV000073427 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-16 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 2691 of the BRCA2 protein (p.Ser2691Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 52497). 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 C0"). An algorithm developed specifically for the BRCA2 gene (PMID: 19043619), suggests that this missense change is likely to be deleterious. However, none of these predictions have been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113867 SCV000147266 uncertain significance Breast-ovarian cancer, familial 2 2000-11-10 no assertion criteria provided clinical testing

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