Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569397 | SCV000672813 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-09-14 | criteria provided, single submitter | clinical testing | The p.R385Q variant (also known as c.1154G>A), located in coding exon 12 of the BAP1 gene, results from a G to A substitution at nucleotide position 1154. The arginine at codon 385 is replaced by glutamine, an amino acid with highly similar properties. This nucleotide position is highly conserved in available vertebrate species. 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. |
Invitae | RCV000820772 | SCV000961499 | uncertain significance | BAP1-related tumor predisposition syndrome | 2023-01-06 | 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BAP1 protein function. ClinVar contains an entry for this variant (Variation ID: 485288). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. This variant is present in population databases (rs765258055, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 385 of the BAP1 protein (p.Arg385Gln). |
Color Diagnostics, |
RCV000569397 | SCV001341656 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001775896 | SCV002013895 | uncertain significance | not provided | 2021-04-19 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV000820772 | SCV004213176 | uncertain significance | BAP1-related tumor predisposition syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing |