Gene entry
BAP1
BRCA1 associated deubiquitinase 1
- Chromosome
- 3
- Cytoband
- 3p21.1
- Variants (rsID)
- 10
BAP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.1). Its official name is “BRCA1 associated deubiquitinase 1”. The reference table lists 10 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs372586694Conflicting interpretationssingle nucleotide variantBAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
- rs770446947Conflicting interpretationssingle nucleotide variantBAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
- rs773494626Conflicting interpretationssingle nucleotide variantBAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
- rs150524807Likely benignsingle nucleotide variantBAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
- rs777417522Likely benignsingle nucleotide variantBAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
- rs375129361Pathogenicsingle nucleotide variantBAP1-related tumor predisposition syndrome
- rs387906848Pathogenicsingle nucleotide variantBAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
- rs864622592Pathogenicsingle nucleotide variantBAP1-related tumor predisposition syndrome
- rs869025212PathogenicDeletionBAP1 Cancer Syndrome|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome|Melanoma, uveal, susceptibility to, 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
