ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7334G>C (p.Ser2445Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002380188 SCV002670359 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-04 criteria provided, single submitter clinical testing The p.S2445T variant (also known as c.7334G>C), located in coding exon 13 of the BRCA2 gene, results from a G to C substitution at nucleotide position 7334. The serine at codon 2445 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098548 SCV003202329 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-24 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. 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 serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 2445 of the BRCA2 protein (p.Ser2445Thr).
Baylor Genetics RCV004572348 SCV005059086 uncertain significance Familial cancer of breast 2024-01-30 criteria provided, single submitter clinical testing

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