Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026977 | SCV001189462 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-03-31 | criteria provided, single submitter | clinical testing | The p.R265G variant (also known as c.793A>G), located in coding exon 6 of the BRIP1 gene, results from an A to G substitution at nucleotide position 793. The arginine at codon 265 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well 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. |
| Labcorp Genetics |
RCV001305741 | SCV001495087 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2020-10-12 | 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 827346). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 265 of the BRIP1 protein (p.Arg265Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. |