Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002326509 | SCV002605586 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-08 | criteria provided, single submitter | clinical testing | The p.I1111M variant (also known as c.3333T>G), located in coding exon 10 of the BRCA2 gene, results from a T to G substitution at nucleotide position 3333. The isoleucine at codon 1111 is replaced by methionine, an amino acid with highly similar properties. This alteration was detected in a cohort of 165 French patients who underwent BRCA1/2 testing (Coulet F et al. Genet Test Mol Biomarkers, 2010 Oct;14:677-90). This amino acid position is highly 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. |
University of Washington Department of Laboratory Medicine, |
RCV002326509 | SCV003851871 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |