ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2708A>C (p.Gln903Pro)

dbSNP: rs2061357542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047161 SCV001211098 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 903 of the BRIP1 protein (p.Gln903Pro). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and proline. 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. 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"). 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 RCV002436578 SCV002744910 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-20 criteria provided, single submitter clinical testing The p.Q903P variant (also known as c.2708A>C), located in coding exon 18 of the BRIP1 gene, results from an A to C substitution at nucleotide position 2708. The glutamine at codon 903 is replaced by proline, 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.
Color Diagnostics, LLC DBA Color Health RCV002436578 SCV004362904 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-10 criteria provided, single submitter clinical testing This missense variant replaces glutamine with proline at codon 903 of the BRIP1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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