BBS4 p.Pro494=
c.1482C>A · rs2151058298 · VCV1284719
Benign/Likely benign
No assertion criteria
Classification
Benign/Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 8.48e-05%, nfe)
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 -0.61 | GERP -3.1 |
| Overall | ||
| CADD | 4.011 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.48e-05%
European (non-Finnish) · 1/1,179,626 alleles
Overall
6.2e-05%
1/1,613,054 alleles · very rare
exomes 1/1,460,780 · genomes 0/152,274 · joint denominator
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BBS4
- Protein
- p.Pro494=
- Coding
- c.1482C>A
- MANE Select
- NM_033028
- dbSNP
- rs2151058298
- Type
- single nucleotide variant
- Location
- chr15:72737509 (GRCh38)
- Gene constraint
- LOEUF 0.953 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.36 · 1 PDB
- Residue 494
- the 'required for localization to centrosomes' region; the 'disordered' region
Similar variants
- BBS4 c.1106+2T>A Pathogenic/Likely pathogenic ★★ same type
- BBS4 c.1248+1G>A Pathogenic/Likely pathogenic ★★ same type
- BBS4 c.1248+1G>T Pathogenic ★★ same type
- BBS4 c.1248+2T>C Pathogenic/Likely pathogenic ★★ same type
- BBS4 c.1249-2A>C Likely pathogenic ★★ same type
- BBS4 c.157-2A>G Pathogenic ★★ same type
- BBS4 c.157-3C>G Pathogenic ★★ same type
- BBS4 c.220+1G>C Pathogenic ★★ same type
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/bbs4-p-pro494 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown