BBS5 c.(?_-60
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Bardet-Biedl syndrome 5
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- BBS5
- Coding
- c.(?_-60
- MANE Select
- NM_152384
- Type
- Deletion
- Gene constraint
- LOEUF 0.884 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.87 · 1 PDB
Disease context
Bardet-Biedl syndrome 5 — 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
- BBS5 p.Asn149fs Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Gly42fs Pathogenic ★★ same condition
- BBS5 p.Lys236_Ile237insTer Pathogenic ★★ same condition
- BBS5 p.Val315fs Pathogenic/Likely pathogenic ★★ same condition
- BBS5 c.619-16_619-15del Benign/Likely benign ★★ same condition
- BBS5 c.142+1del Likely pathogenic ★ same condition
- BBS5 p.Gly27fs Likely pathogenic ★ same condition
- BBS5 p.Leu320fs Likely 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/bbs5-c-minus-60 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown