Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000561544 | SCV000672760 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-02-25 | criteria provided, single submitter | clinical testing | The c.1951_1953delAAG variant (also known as p.K651del) is located in coding exon 15 of the BAP1 gene. This variant results from an in-frame AAG deletion at nucleotide positions 1951 to 1953. This results in the in-frame deletion of a lysine at codon 651. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV000685945 | SCV000813446 | uncertain significance | BAP1-related tumor predisposition syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | This variant, c.1951_1953del, results in the deletion of 1 amino acid(s) of the BAP1 protein (p.Lys651del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 485250). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
| Gene |
RCV002305509 | SCV002599651 | uncertain significance | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002305509 | SCV004221388 | uncertain significance | not provided | 2022-11-29 | criteria provided, single submitter | clinical testing | The variant has not been reported in individuals with BAP1-related conditions in the published literature. The frequency of this variant in the general population, 0.000032 (1/31386 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant. |