ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9547A>C (p.Ile3183Leu)

dbSNP: rs377123889
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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 RCV001321386 SCV001512213 uncertain significance Hereditary breast ovarian cancer syndrome 2022-10-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3183 of the BRCA2 protein (p.Ile3183Leu). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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: 1021594).
Ambry Genetics RCV002377401 SCV002690737 likely benign Hereditary cancer-predisposing syndrome 2020-12-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004803634 SCV005425857 uncertain significance BRCA2-related cancer predisposition 2024-09-23 criteria provided, single submitter clinical testing

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