Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002330031 | SCV002631719 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-02 | criteria provided, single submitter | clinical testing | The c.427_428delCAinsGG variant, located in coding exon 4 of the BRIP1 gene, results from an in-frame deletion of CA and insertion of GG at nucleotide positions 427 to 428. This results in the substitution of the glutamine residue for a glycine residue at codon 143, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003775853 | SCV004595570 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 143 of the BRIP1 protein (p.Gln143Gly). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 1739256). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |