BBS5 p.Ile147=
c.441T>A · VCV3347348
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
BBS5-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP 0.46, phastCons 1 |
| Overall | ||
| CADD | 10.1 | 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.Ile147=
- Coding
- c.441T>A
- MANE Select
- NM_152384
- Type
- single nucleotide variant
- Location
- chr2:169492928 (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
BBS5-related disorder
Similar variants
- BBS5 c.209-2A>G Likely pathogenic ★★ same condition
- BBS5 c.522+3A>G Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Arg138His Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Gln205Ter Likely pathogenic ★★ same condition
- BBS5 p.Gln20Ter Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Gly72Ser Pathogenic/Likely pathogenic ★★ same condition
- BBS5 p.Met1Thr Pathogenic/Likely pathogenic ★★ same condition
- BBS5 c.522+1G>A 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-p-ile147 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown