Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomic Medicine, |
RCV002268726 | SCV002550266 | likely benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002443283 | SCV002676396 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-10-24 | criteria provided, single submitter | clinical testing | The p.M287K variant (also known as c.860T>A), located in coding exon 9 of the BRCA2 gene, results from a T to A substitution at nucleotide position 860. The methionine at codon 287 is replaced by lysine, 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. |
University of Washington Department of Laboratory Medicine, |
RCV002443283 | SCV003848090 | 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). |