ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5998T>C (p.Phe2000Leu)

dbSNP: rs730881541
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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 RCV001045630 SCV001209494 uncertain significance Hereditary breast ovarian cancer syndrome 2019-11-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRCA2-related conditions. This sequence change replaces phenylalanine with leucine at codon 2000 of the BRCA2 protein (p.Phe2000Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV003158332 SCV003850847 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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