ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4715C>A (p.Ala1572Asp)

dbSNP: rs2072511378
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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 RCV001895837 SCV002147622 uncertain significance Hereditary breast ovarian cancer syndrome 2021-05-27 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 alanine with aspartic acid at codon 1572 of the BRCA2 protein (p.Ala1572Asp). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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. 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 RCV003156791 SCV003852040 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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