ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.427C>A (p.Pro143Thr)

dbSNP: rs2137449301
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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 RCV001911336 SCV002174430 uncertain significance Hereditary breast ovarian cancer syndrome 2023-07-30 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1400453). 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). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 143 of the BRCA2 protein (p.Pro143Thr).
Ambry Genetics RCV004041750 SCV005026415 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-09 criteria provided, single submitter clinical testing The p.P143T variant (also known as c.427C>A), located in coding exon 4 of the BRCA2 gene, results from a C to A substitution at nucleotide position 427. The proline at codon 143 is replaced by threonine, 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.

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