ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4732T>G (p.Leu1578Val)

dbSNP: rs80358700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV003156778 SCV003852056 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV003644870 SCV004517375 uncertain significance Hereditary breast ovarian cancer syndrome 2022-11-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 51705). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1578 of the BRCA2 protein (p.Leu1578Val).
Breast Cancer Information Core (BIC) (BRCA2) RCV000113339 SCV000146478 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 1999-06-22 no assertion criteria provided clinical testing

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