Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589917 | SCV000695167 | uncertain significance | not provided | 2016-03-10 | criteria provided, single submitter | clinical testing | Variant summary: c.8639C>G affects a non-conserved nucleotide, resulting in amino acid change from Thr to Arg. 3/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant was not found in 119570 control chromosomes. The variant of interest has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Ambry Genetics | RCV004601209 | SCV005097558 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-10 | criteria provided, single submitter | clinical testing | The p.T2880R variant (also known as c.8639C>G), located in coding exon 20 of the BRCA2 gene, results from a C to G substitution at nucleotide position 8639. The threonine at codon 2880 is replaced by arginine, an amino acid with similar properties. This amino acid position is poorly 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 variant remains unclear. |