BBS4 p.Pro498=
c.1494T>G · rs1186383384 · VCV1109737
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 carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.36 | GERP -0.82, phastCons 0.54 |
| Overall | ||
| CADD | 8.722 | 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
- BBS4
- Protein
- p.Pro498=
- Coding
- c.1494T>G
- MANE Select
- NM_033028
- dbSNP
- rs1186383384
- Type
- single nucleotide variant
- Location
- chr15:72737521 (GRCh38)
- Gene constraint
- LOEUF 0.953 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.36 · 1 PDB
- Residue 498
- the 'required for localization to centrosomes' region; the 'disordered' region
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
- BBS4 p.Pro498fs Uncertain significance ★★ same residue
- BBS4 p.Pro498His Uncertain significance ★★ ⚠ same residue
- BBS4 c.1106+2T>A Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1248+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1248+1G>T Pathogenic ★★ same condition
- BBS4 c.1248+2T>C Pathogenic/Likely pathogenic ★★ same condition
- BBS4 c.1249-2A>C Likely pathogenic ★★ same condition
- BBS4 c.157-2A>G 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/bbs4-p-pro498 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown