ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8107A>G (p.Thr2703Ala)

dbSNP: rs2137580800
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892015 SCV002138260 uncertain significance Hereditary breast ovarian cancer syndrome 2022-09-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2703 of the BRCA2 protein (p.Thr2703Ala). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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: 1379565).
Ambry Genetics RCV002422953 SCV002677126 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-25 criteria provided, single submitter clinical testing The p.T2703A variant (also known as c.8107A>G), located in coding exon 17 of the BRCA2 gene, results from an A to G substitution at nucleotide position 8107. The threonine at codon 2703 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004699524 SCV005201279 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 8335A>G; This variant is associated with the following publications: (PMID: 12228710)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.