BBS7 p.Val13=
c.39G>A · VCV3352142
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
BBS7-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.45 | acceptor gain · deltas |
|---|---|---|
| Pangolin | Δ0.26 | gain · loss 0.04 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP -0.25 | GERP -1.5, phastCons 0.2 |
| Overall | ||
| CADD | 16.48 | 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
- Protein
- p.Val13=
- Coding
- c.39G>A
- MANE Select
- NM_176824
- Type
- single nucleotide variant
- Location
- chr4:121868044 (GRCh38)
- Gene constraint
- LOEUF 0.701 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 92.99
Disease context
BBS7-related disorder
Similar variants
- BBS7 p.Val13Met Uncertain significance ★ ⚠ same residue
- BBS7 c.529-2A>G Pathogenic/Likely pathogenic ★★ same condition
- BBS7 p.His323Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
- BBS7 p.Thr211Ile Pathogenic ★★ same condition
- BBS7 p.Ser395Asn Uncertain significance ★★ ⚠ same condition
- BBS7 c.601+1G>A Likely pathogenic ★ same condition
- BBS7 p.Ile249Asn Likely pathogenic ★ same condition
- BBS7 p.Trp313Ter 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-p-val13 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown