ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8203C>A (p.Pro2735Thr)

dbSNP: rs1247198934
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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 RCV002005837 SCV002270450 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-21 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: 1484491). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2735 of the BRCA2 protein (p.Pro2735Thr).
Ambry Genetics RCV004946993 SCV005548559 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-19 criteria provided, single submitter clinical testing The p.P2735T variant (also known as c.8203C>A), located in coding exon 17 of the BRCA2 gene, results from a C to A substitution at nucleotide position 8203. The proline at codon 2735 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005238141 SCV005886842 uncertain significance not specified 2025-02-02 criteria provided, single submitter clinical testing

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