BBS1 p.Pro417fs
c.1248dup · VCV3349943
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
BBS1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.5 | GERP 1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BBS1
- Protein
- p.Pro417fs
- Coding
- c.1248dup
- MANE Select
- NM_024649
- Type
- Duplication
- Location
- chr11:66526715 (GRCh38)
- Gene constraint
- LOEUF 1.003 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.05 · 1 PDB
Disease context
BBS1-related disorder
Similar variants
- BBS1 p.Ser7fs Pathogenic/Likely pathogenic ★★ same condition
- BBS1 p.Pro417= Likely benign ★ same residue
- BBS1 c.1181-9C>G Pathogenic/Likely pathogenic ★★ same condition
- BBS1 c.724-1G>C Pathogenic/Likely pathogenic ★★ same condition
- BBS1 c.952-1G>A Likely pathogenic ★★ same condition
- BBS1 p.Ala447Thr Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BBS1 p.Arg440Ter Pathogenic/Likely pathogenic ★★ same condition
- BBS1 p.Arg483Ter 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/bbs1-p-pro417fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown