ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4162A>C (p.Thr1388Pro)

dbSNP: rs1555283603
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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 RCV000637738 SCV000759211 uncertain significance Hereditary breast ovarian cancer syndrome 2017-12-17 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 do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with proline at codon 1388 of the BRCA2 protein (p.Thr1388Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157793 SCV003848734 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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