ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9346C>T (p.Pro3116Ser)

dbSNP: rs2073022081
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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 RCV001203926 SCV001375109 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 3116 of the BRCA2 protein (p.Pro3116Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with breast and ovarian cancer (PMID: 9150154). 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"). 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 RCV004768911 SCV005376335 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 9574C>T; Observed in an individual with a personal and/or family history of breast, ovarian, and other cancers (Hkansson et al., 1997); This variant is associated with the following publications: (PMID: 12228710, 9150154)

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