ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7612A>G (p.Lys2538Glu)

dbSNP: rs397507921
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686189 SCV000813693 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-16 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. ClinVar contains an entry for this variant (Variation ID: 91484). 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 lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 2538 of the BRCA2 protein (p.Lys2538Glu).
Ambry Genetics RCV002390230 SCV002671852 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-17 criteria provided, single submitter clinical testing The p.K2538E variant (also known as c.7612A>G), located in coding exon 14 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7612. The lysine at codon 2538 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamic acid is the reference amino acid in other 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.
Baylor Genetics RCV003460726 SCV004216065 uncertain significance Familial cancer of breast 2023-06-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077001 SCV000108798 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2012-11-19 no assertion criteria provided clinical testing

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