ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7958T>G (p.Leu2653Arg)

dbSNP: rs80359022
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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 RCV000465947 SCV000549878 uncertain significance Hereditary breast ovarian cancer syndrome 2023-02-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2653 of the BRCA2 protein (p.Leu2653Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 409607). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant disrupts the p.Leu2653 amino acid residue in BRCA2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17924331, 19043619, 21990134, 22678057, 23108138, 24323938, 26718727). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Baylor Genetics RCV003463920 SCV004216074 uncertain significance Familial cancer of breast 2023-06-16 criteria provided, single submitter clinical testing

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