BBS7
Chr 4ARBardet-Biedl syndrome 7
Also known as: BBS2L1
The protein encoded by this gene is a component of the BBSome complex that functions as a coat complex required for sorting specific membrane proteins to primary cilia and promoting ciliogenesis through Rab8-mediated vesicle trafficking. Mutations cause Bardet-Biedl syndrome, an autosomal recessive ciliopathy characterized by childhood-onset obesity, retinal degeneration, polydactyly, and nephropathy. This gene has extremely low constraint against loss-of-function variants (pLI near zero), and mutations in BBS7 are thought to play a minor role compared to chaperonin-like BBS genes in disease development.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
700 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 26 | 5 | 30 | 0 | 61 |
Likely Pathogenic | 47 | 4 | 17 | 0 | 68 |
VUS | 3 | 220 | 30 | 5 | 258 |
Likely Benign | 0 | 1 | 148 | 136 | 285 |
Benign | 0 | 0 | 7 | 0 | 7 |
Conflicting | — | 7 | |||
| Total | 76 | 230 | 232 | 141 | 686 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BBS7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools