BBS9 p.Pro847fs
c.2540del · VCV4884258
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 22 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 2.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BBS9
- Protein
- p.Pro847fs
- Coding
- c.2540del
- MANE Select
- NM_198428
- Type
- Deletion
- Location
- chr7:33604881 (GRCh38)
- Gene constraint
- LOEUF 0.959 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.41 · 2 PDB
Similar variants
- BBS9 c.1277_1280delAAGC Pathogenic/Likely pathogenic ★★ same type
- BBS9 p.Asp284_Trp285insTer Pathogenic/Likely pathogenic ★★ same type
- BBS9 p.Cys104fs Pathogenic/Likely pathogenic ★★ same type
- BBS9 p.Glu604fs Pathogenic/Likely pathogenic ★★ same type
- BBS9 p.Gly145fs Pathogenic ★★ same type
- BBS9 p.Gly43fs Likely pathogenic ★★ same type
- BBS9 p.Ile392fs Pathogenic/Likely pathogenic ★★ same type
- BBS9 p.Lys626fs Pathogenic ★★ same type
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/bbs9-p-pro847fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown