ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro)

dbSNP: rs587782249
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066255 SCV001231262 uncertain significance Hereditary breast ovarian cancer syndrome 2023-01-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 2026 of the BRCA2 protein (p.Thr2026Pro). 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: 860015). 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).
Ambry Genetics RCV002355083 SCV002654725 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-11 criteria provided, single submitter clinical testing The p.T2026P variant (also known as c.6076A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 6076. The threonine at codon 2026 is replaced by proline, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509607 SCV002819418 uncertain significance not specified 2022-12-10 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV002355083 SCV003850902 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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