Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000205098 | SCV000261254 | pathogenic | BAP1-related tumor predisposition syndrome | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln260*) in the BAP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BAP1 are known to be pathogenic (PMID: 21874000, 23684012). 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: 220590). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002408896 | SCV002674711 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-24 | criteria provided, single submitter | clinical testing | The p.Q260* pathogenic mutation (also known as c.778C>T), located in coding exon 9 of the BAP1 gene, results from a C to T substitution at nucleotide position 778. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This alteration has been identified in individuals diagnosed with mesothelioma and/or cutaneous melanomas (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 is considered to be rare based on population 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. |