BAP1 p.Ile191fs
c.570dup · VCV4732514
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
BAP1-related tumor predisposition syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BAP1
- Protein
- p.Ile191fs
- Coding
- c.570dup
- MANE Select
- NM_007212 · reported on NM_004656
- Type
- Duplication
- Location
- chr3:52407183 (GRCh38)
- Structure
- AlphaFold pLDDT 78.27 · 28 PDB
- Residue 191
- the 'disordered' region
Disease context
BAP1-related tumor predisposition syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor BAP1-related tumor predisposition syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- BAP1 p.Ile191Leu Uncertain significance ★★ ⚠ same residue
- BAP1 p.Ile191Val Uncertain significance ★★ ⚠ same residue
- BAP1 p.Ile191Thr Conflicting classifications of pathogenicity ★ ⚠ same residue
- BAP1 p.Arg146fs Pathogenic ★★ same condition
- BAP1 p.Asn504fs Pathogenic ★★ same condition
- BAP1 p.Cys320fs Pathogenic ★★ same condition
- BAP1 p.Gln280fs Pathogenic ★★ same condition
- BAP1 p.Glu198fs Pathogenic/Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/bap1-p-ile191fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown