BBS12 p.Ile497=
c.1491T>A · VCV3356642
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
BBS12-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 -1.6 | GERP -0.85 |
| Overall | ||
| CADD | 2.379 | 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
- BBS12
- Protein
- p.Ile497=
- Coding
- c.1491T>A
- MANE Select
- NM_152618
- Type
- single nucleotide variant
- Location
- chr4:122743383 (GRCh38)
- Gene constraint
- LOEUF 1.419 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.92
Disease context
BBS12-related disorder
Similar variants
- BBS12 p.Ile497Thr Uncertain significance ★ ⚠ same residue
- BBS12 p.Ala289Pro Likely pathogenic ★★ same condition
- BBS12 p.Arg214Ter Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Arg355Ter Pathogenic ★★ same condition
- BBS12 p.Gln228Ter Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Gln459Ter Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Glu254Ter Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Gly540Val Pathogenic/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/bbs12-p-ile497 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown