BBS2 c.472del
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
3
retinitis pigmentosa 74
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.8, phastCons 1 |
| Non-coding constraint | Z 0.87 | 1 kb window · o/e 0.94 · regional · uncalibrated |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- BBS2
- Coding
- c.472del
- MANE Select
- NM_031885
- dbSNP
- rs587777826
- Type
- Deletion
- Location
- chr16:56510921 (GRCh38)
- Gene constraint
- LOEUF 0.892 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.49
Disease context
retinitis pigmentosa 74 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: Bardet-Biedl syndrome 2Bardet-Biedl syndrome
For Retinitis pigmentosa (Orphanet):
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- BBS2 c.804+1_804+14del Likely pathogenic ★★ same condition
- BBS2 c.940+1del Pathogenic/Likely pathogenic ★★ same condition
- BBS2 p.Arg339fs Pathogenic/Likely pathogenic ★★ same condition
- BBS2 p.Asn258fs Pathogenic/Likely pathogenic ★★ same condition
- BBS2 p.Asp371fs Likely pathogenic ★★ same condition
- BBS2 p.Asp649fs Pathogenic/Likely pathogenic ★★ same condition
- BBS2 p.Cys210fs Pathogenic/Likely pathogenic ★★ same condition
- BBS2 p.Glu86fs 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/bbs2-c-472del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown