Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468532 | SCV000553977 | pathogenic | BAP1-related tumor predisposition syndrome | 2019-02-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). This variant has not been reported in the literature in individuals with BAP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr173Leufs*10) in the BAP1 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002341057 | SCV002643141 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-12 | criteria provided, single submitter | clinical testing | The c.517dupT pathogenic mutation, located in coding exon 7 of the BAP1 gene, results from a duplication of T at nucleotide position 517, causing a translational frameshift with a predicted alternate stop codon (p.Y173Lfs*10). This mutation, also designated as c.517insT in published literature, has been reported in individuals with personal and family histories of BAP1-related tumors, including a peritoneal malignant mesothelioma demonstrating BAP1 protein loss by IHC (Panou V et al. J Clin Oncol, 2018 10;36:2863-2871; Walpole S et al. J Natl Cancer Inst, 2018 12;110:1328-1341). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV000468532 | SCV004186042 | pathogenic | BAP1-related tumor predisposition syndrome | 2023-12-06 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |