ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7594C>A (p.Pro2532Thr)

dbSNP: rs397507388
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774404 SCV000908106 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774404 SCV002673682 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter clinical testing The p.P2532T variant (also known as c.7594C>A), located in coding exon 14 of the BRCA2 gene, results from a C to A substitution at nucleotide position 7594. The proline at codon 2532 is replaced by threonine, an amino acid with highly similar properties. This alteration was found to be functional in a homology directed DNA repair assay (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536681 SCV003231587 uncertain significance Hereditary breast ovarian cancer syndrome 2022-08-31 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2532 of the BRCA2 protein (p.Pro2532Thr). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 629694).

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