BBS5 p.Arg49=
c.145A>C · VCV3642933
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Bardet-Biedl syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.35 | acceptor gain · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 6.8 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 15.32 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BBS5
- Protein
- p.Arg49=
- Coding
- c.145A>C
- MANE Select
- NM_152384
- Type
- single nucleotide variant
- Location
- chr2:169487071 (GRCh38)
- 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 — 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 c.143-1G>C Pathogenic/Likely pathogenic ★★ same condition
- BBS5 c.209-1G>A Pathogenic/Likely pathogenic ★★ same condition
- BBS5 c.209-2A>G Likely pathogenic ★★ same condition
- BBS5 c.522+3A>G Pathogenic/Likely pathogenic ★★ same condition
- BBS5 c.681+1G>T Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Arg138Cys Likely pathogenic ★★ same condition
- BBS5 p.Arg138His Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Arg89Ter 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-p-arg49 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown