ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2587T>C (p.Trp863Arg)

dbSNP: rs876660452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219467 SCV000277893 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-21 criteria provided, single submitter clinical testing The p.W863R variant (also known as c.2587T>C), located in coding exon 18 of the BRIP1 gene, results from a T to C substitution at nucleotide position 2587. The tryptophan at codon 863 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000804466 SCV000944377 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-09-10 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 863 of the BRIP1 protein (p.Trp863Arg). This variant is not present in population databases (gnomAD 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: 233509). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BRIP1 protein function. 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.
Baylor Genetics RCV004567641 SCV005059247 uncertain significance Familial cancer of breast 2024-02-16 criteria provided, single submitter clinical testing

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