BBS9 p.Glu770=
c.2310A>G · rs2537669058 · VCV2854108
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Bardet-Biedl syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.086 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP 0.15, phastCons 1 |
| Overall | ||
| CADD | 4.794 | 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
- BBS9
- Protein
- p.Glu770=
- Coding
- c.2310A>G
- MANE Select
- NM_198428
- dbSNP
- rs2537669058
- Type
- single nucleotide variant
- Location
- chr7:33533965 (GRCh38)
- Gene constraint
- LOEUF 0.959 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.41 · 2 PDB
Disease context
Bardet-Biedl syndrome — 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
- BBS9 p.Glu770Gly Uncertain significance ★★ ⚠ same residue
- BBS9 c.1329+1738C>T Likely pathogenic ★★ same condition
- BBS9 c.1552+2T>A Likely pathogenic ★★ same condition
- BBS9 c.1693+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BBS9 c.1789+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BBS9 c.1789+1G>C Pathogenic/Likely pathogenic ★★ same condition
- BBS9 c.2299-2A>C Likely pathogenic ★★ same condition
- BBS9 c.2521+1G>T 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/bbs9-p-glu770 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown