BBS12 p.Lys34=
c.102A>G · rs1578489571 · VCV781607
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 0.47 | GERP 0.56, phastCons 0.43 |
| Overall | ||
| CADD | 4.542 | 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.Lys34=
- Coding
- c.102A>G
- MANE Select
- NM_152618
- dbSNP
- rs1578489571
- Type
- single nucleotide variant
- Location
- chr4:122741994 (GRCh38)
- Gene constraint
- LOEUF 1.419 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.92
Similar variants
- BBS12 p.Ala289Pro Likely pathogenic ★★ same type
- BBS12 p.Arg214Ter Pathogenic/Likely pathogenic ★★ same type
- BBS12 p.Arg355Ter Pathogenic ★★ same type
- BBS12 p.Arg675Ter Pathogenic/Likely pathogenic ★★ same type
- BBS12 p.Gln149Ter Pathogenic/Likely pathogenic ★★ same type
- BBS12 p.Gln228Ter Pathogenic/Likely pathogenic ★★ same type
- BBS12 p.Gln300Ter Pathogenic ★★ same type
- BBS12 p.Gln402Ter 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/bbs12-p-lys34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown