BBS4 c.76+3del
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Bardet-Biedl syndrome 4
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +3 | donor splice region (+3, within the first 6 intronic nt) · inside the BP7-excluded zone |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.4 | GERP 1.4, phastCons 1 |
| Non-coding constraint | Z -0.22 | 1 kb window · o/e 1.02 · 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
- BBS4
- Coding
- c.76+3del
- MANE Select
- NM_033028
- dbSNP
- rs2542892339
- Type
- Deletion
- Location
- chr15:72695231 (GRCh38)
- Gene constraint
- LOEUF 0.953 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.36 · 1 PDB
Disease context
Bardet-Biedl syndrome 4 — 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 c.1064_1106+97del Pathogenic/Likely pathogenic ★★ same condition
- BBS4 p.Ala467fs Likely pathogenic ★★ same condition
- BBS4 p.Leu114fs Pathogenic/Likely pathogenic ★★ same condition
- BBS4 p.Leu310fs Pathogenic/Likely pathogenic ★★ same condition
- BBS4 p.Leu381fs Pathogenic/Likely pathogenic ★★ same condition
- BBS4 p.Lys358fs Pathogenic/Likely pathogenic ★★ same condition
- BBS4 p.Pro30fs Pathogenic/Likely pathogenic ★★ same condition
- BBS4 p.Ser409fs 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-c-76-plus-3del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown