ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8317T>C (p.Ser2773Pro)

dbSNP: rs143761565
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164532 SCV000215187 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing The p.S2773P variant (also known as c.8317T>C), located in coding exon 17 of the BRCA2 gene, results from a T to C substitution at nucleotide position 8317. The serine at codon 2773 is replaced by proline, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001303249 SCV001492489 uncertain significance Hereditary breast ovarian cancer syndrome 2020-06-30 criteria provided, single submitter clinical testing 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. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 185163). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 2773 of the BRCA2 protein (p.Ser2773Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.
Baylor Genetics RCV003462139 SCV004216109 uncertain significance Familial cancer of breast 2023-05-26 criteria provided, single submitter clinical testing

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