Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000573526 | SCV000673120 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-02-28 | criteria provided, single submitter | clinical testing | The p.S206Y variant (also known as c.617C>A), located in coding exon 6 of the BRCA2 gene, results from a C to A substitution at nucleotide position 617. The serine at codon 206 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is 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. |
| Labcorp Genetics |
RCV001243062 | SCV001416195 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-10-01 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 485433). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with tyrosine at codon 206 of the BRCA2 protein (p.Ser206Tyr). The serine residue is moderately conserved and there is a large physicochemical difference between serine and tyrosine. |