Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000691047 | SCV000818786 | uncertain significance | Familial cancer of breast; Fanconi anemia, complementation group J | 2019-09-26 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 801 of the BRIP1 protein (p.Asn801Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. 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"). 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 | RCV001015421 | SCV001176250 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-13 | criteria provided, single submitter | clinical testing | The p.N801S variant (also known as c.2402A>G), located in coding exon 16 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2402. The asparagine at codon 801 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly 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. |