BBS7 c.102+8A>T
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. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Non-coding constraint | Z 1.31 | 1 kb window · o/e 0.90 · regional · uncalibrated |
| Overall | ||
| CADD | 2.192 | 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
- BBS7
- Coding
- c.102+8A>T
- MANE Select
- NM_176824
- dbSNP
- rs776389340
- Type
- single nucleotide variant
- Location
- chr4:121867973 (GRCh38)
- Gene constraint
- LOEUF 0.701 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 92.99
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
- BBS7 c.1305+2T>A Likely pathogenic ★★ same condition
- BBS7 c.1371+1G>A Likely pathogenic ★★ same condition
- BBS7 c.1512-1G>A Likely pathogenic ★★ same condition
- BBS7 c.1677-2A>G Pathogenic/Likely pathogenic ★★ same condition
- BBS7 c.1891-2A>C Pathogenic/Likely pathogenic ★★ same condition
- BBS7 c.342-2A>G Pathogenic/Likely pathogenic ★★ same condition
- BBS7 c.849+1G>C Pathogenic/Likely pathogenic ★★ same condition
- BBS7 p.Arg280Ter 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/bbs7-c-102-plus-8a-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown