BAP1 p.Arg518fs
c.1551del · VCV3689383
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BAP1
- Protein
- p.Arg518fs
- Coding
- c.1551del
- MANE Select
- NM_004656
- Type
- Deletion
- Location
- chr3:52403594 (GRCh38)
- Gene constraint
- LOEUF 0.324 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 63.87 · 4 PDB
- Residue 518
- a UniProt-annotated variant site (in tpds1); the 'disordered' region
Disease context
BAP1-related tumor predisposition syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: hereditary neoplastic syndrome
For BAP1-related tumor predisposition syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- BAP1 p.Arg518Gln Uncertain significance ★★ ⚠ same residue
- BAP1 p.Arg518= Benign/Likely benign ★★ same residue
- BAP1 p.Arg518Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
- BAP1 c.123-10_129del Likely pathogenic ★★ same condition
- BAP1 c.1729+1del Pathogenic ★★ same condition
- BAP1 c.1984-3_1999del Likely pathogenic ★★ same condition
- BAP1 c.659+1del Likely pathogenic ★★ same condition
- BAP1 p.Ala138fs 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-arg518fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown