Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000575179 | SCV000666259 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-26 | criteria provided, single submitter | clinical testing | The p.G290A variant (also known as c.869G>C), located in coding exon 6 of the BRIP1 gene, results from a G to C substitution at nucleotide position 869. The glycine at codon 290 is replaced by alanine, 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. |
| Labcorp Genetics |
RCV001858191 | SCV002155582 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2021-10-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with alanine at codon 290 of the BRIP1 protein (p.Gly290Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 481666). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |