ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2422A>G (p.Arg808Gly)

dbSNP: rs587780237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116140 SCV000150049 uncertain significance not provided 2018-12-27 criteria provided, single submitter clinical testing This variant is denoted BRIP1 c.2422A>G at the cDNA level, p.Arg808Gly (R808G) at the protein level, and results in the change of an Arginine to a Glycine (AGA>GGA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRIP1 Arg808Gly was not observed in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether BRIP1 Arg808Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance
Ambry Genetics RCV000571281 SCV000664830 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing The p.R808G variant (also known as c.2422A>G), located in coding exon 16 of the BRIP1 gene, results from an A to G substitution at nucleotide position 2422. The arginine at codon 808 is replaced by glycine, 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 RCV001854562 SCV002118658 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2023-08-07 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 128171). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 808 of the BRIP1 protein (p.Arg808Gly).
Baylor Genetics RCV003460834 SCV004214659 uncertain significance Familial cancer of breast 2023-10-18 criteria provided, single submitter clinical testing

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