BBS12 p.Asn366fs
c.1095_1096del · rs2150736865 · VCV1179065
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (2 of 2) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.7 | GERP 0.15, phastCons 0.91 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,510 |
| European (non-Finnish)grpmax | 0.000339% | 295,002 |
Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.
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
- BBS12
- Protein
- p.Asn366fs
- Coding
- c.1095_1096del
- MANE Select
- NM_152618
- dbSNP
- rs2150736865
- Type
- Microsatellite
- Location
- chr4:122742984 (GRCh38)
- Gene constraint
- LOEUF 1.419 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.92
Disease context
Bardet-Biedl syndrome 12 — 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
- BBS12 p.Asp687fs Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.His260fs Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Pro632fs Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Ser196_Tyr197insTer Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Tyr640_Ser641delinsTer Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Val666del Pathogenic/Likely pathogenic ★★ same condition
- BBS12 p.Arg12del Uncertain significance ★★ same condition
- BBS12 p.Glu288del Uncertain significance ★★ 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-asn366fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown