ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7449T>G (p.Ser2483Arg)

dbSNP: rs1566241861
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000690621 SCV000818318 uncertain significance Hereditary breast ovarian cancer syndrome 2024-12-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 2483 of the BRCA2 protein (p.Ser2483Arg). 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: 569881). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002386189 SCV002670314 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-15 criteria provided, single submitter clinical testing The p.S2483R variant (also known as c.7449T>G), located in coding exon 14 of the BRCA2 gene, results from a T to G substitution at nucleotide position 7449. The serine at codon 2483 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569295 SCV005059132 uncertain significance Familial cancer of breast 2023-12-28 criteria provided, single submitter clinical testing

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