ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2383T>C (p.Ser795Pro)

dbSNP: rs878853563
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459755 SCV000549574 uncertain significance Hereditary breast ovarian cancer syndrome 2018-05-10 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 409468). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 795 of the BRCA2 protein (p.Ser795Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157531 SCV003848273 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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