Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001236726 | SCV001409462 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2021-07-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BRIP1-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 433 of the BRIP1 protein (p.Lys433Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. 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. |
| Ambry Genetics | RCV002379904 | SCV002692890 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-15 | criteria provided, single submitter | clinical testing | The p.K433E variant (also known as c.1297A>G), located in coding exon 8 of the BRIP1 gene, results from an A to G substitution at nucleotide position 1297. The lysine at codon 433 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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. |