BBS9 p.Lys810fs
c.2430del · VCV3594583
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Bardet-Biedl syndrome 9
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 21 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.5 | GERP 1.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BBS9
- Protein
- p.Lys810fs
- Coding
- c.2430del
- MANE Select
- NM_198428
- Type
- Deletion
- Location
- chr7:33534083 (GRCh38)
- Gene constraint
- LOEUF 0.959 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.41 · 2 PDB
Disease context
Bardet-Biedl syndrome 9 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Bardet-Biedl syndrome (Orphanet):
- Inheritance
- Autosomal recessive, Oligogenic
- Onset
- Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 100 000 (Specific population)
Similar variants
- BBS9 p.Cys104fs Pathogenic/Likely pathogenic ★★ same condition
- BBS9 p.Glu604fs Pathogenic/Likely pathogenic ★★ same condition
- BBS9 p.Gly145fs Pathogenic ★★ same condition
- BBS9 p.Gly43fs Likely pathogenic ★★ same condition
- BBS9 p.Ile392fs Pathogenic/Likely pathogenic ★★ same condition
- BBS9 p.Lys626fs Pathogenic ★★ same condition
- BBS9 p.Val72fs Pathogenic/Likely pathogenic ★★ same condition
- BBS9 p.Glu765_Leu766delinsVal Uncertain significance ★★ 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/bbs9-p-lys810fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown