ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2297C>A (p.Ala766Asp)

dbSNP: rs2072454625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316048 SCV001506649 uncertain significance Hereditary breast ovarian cancer syndrome 2023-03-16 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 1016968). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 766 of the BRCA2 protein (p.Ala766Asp).
University of Washington Department of Laboratory Medicine, University of Washington RCV003158708 SCV003848206 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).
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003230659 SCV003926634 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-05-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 766 of the BRCA2 protein (p.Ala766Asp). The alanine residue is weakly conserved . This variant is not present in population databases (gnomAD). 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: 1016968). this alteration is predicted to be tolerated by in silico analysis.. 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.

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