BBS7 p.Arg587=
c.1761G>A · VCV3356358
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
1
BBS7-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.43 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.1 | GERP 1, phastCons 1 |
| Overall | ||
| CADD | 9.752 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/90,692 alleles
Filtering AF
6.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.9e-05%
Overall
0.000249%
4/1,606,392 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0011% | 90,692 |
| European (non-Finnish) | 0.000256% | 391,236 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BBS7
- Protein
- p.Arg587=
- Coding
- c.1761G>A
- MANE Select
- NM_176824
- Type
- single nucleotide variant
- Location
- chr4:121828644 (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 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.Arg587fs Likely pathogenic ★ same residue
- 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-arg587 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown