ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6985C>A (p.Pro2329Thr)

dbSNP: rs1555285355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545673 SCV000635548 uncertain significance Hereditary breast ovarian cancer syndrome 2020-06-08 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 2329 of the BRCA2 protein (p.Pro2329Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease.
Ambry Genetics RCV001025882 SCV001188157 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-09 criteria provided, single submitter clinical testing The p.P2329T variant (also known as c.6985C>A), located in coding exon 12 of the BRCA2 gene, results from a C to A substitution at nucleotide position 6985. The proline at codon 2329 is replaced by threonine, an amino acid with highly similar properties. 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.

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