ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9754T>A (p.Ser3252Thr)

dbSNP: rs1060502467
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985631 SCV001133989 uncertain significance not provided 2019-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382219 SCV002693921 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-24 criteria provided, single submitter clinical testing The p.S3252T variant (also known as c.9754T>A), located in coding exon 26 of the BRCA2 gene, results from a T to A substitution at nucleotide position 9754. The serine at codon 3252 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 RCV002550592 SCV003344263 uncertain significance Hereditary breast ovarian cancer syndrome 2023-03-18 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3252 of the BRCA2 protein (p.Ser3252Thr). This variant is not present in population databases (gnomAD no frequency). 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: 801129). 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.

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