GNB1 p.Arg96=
c.288C>T · rs770828889 · VCV1593919
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.027%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.65 | GERP -5.4 |
| Overall | ||
| CADD | 5.964 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.027%
Admixed American · 16/59,350 alleles
Filtering AF
0.0169%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0137%
Overall
0.00149%
24/1,608,930 alleles · ultra-rare
exomes 16/1,456,712 · genomes 8/152,218 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.027% | 3,709 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 62,278 |
| African / African-American | 0.00134% | 74,756 |
| European (non-Finnish) | 0.00051% | 196,162 |
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
- GNB1
- Protein
- p.Arg96=
- Coding
- c.288C>T
- MANE Select
- NM_002074
- dbSNP
- rs770828889
- Type
- single nucleotide variant
- Location
- chr1:1804561 (GRCh38)
- Gene constraint
- LOEUF 0.222 · pLI 1.00 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 97.04 · 1043 PDB
- Residue 96
- a UniProt-annotated variant site (in mrd42; decreases receptor-driven g protein activation; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance; no effect on complex formation with gamma subunit); a β-strand
Similar variants
- GNB1 p.Arg96Cys Likely pathogenic ★ same residue
- GNB1 p.Arg96Leu Pathogenic same residue
- GNB1 c.498-2A>G Likely pathogenic ★★ same type
- GNB1 p.Ala73Ser Pathogenic/Likely pathogenic ★★ same type
- GNB1 p.Ala73Thr Pathogenic/Likely pathogenic ★★ same type
- GNB1 p.Ala92Thr Pathogenic/Likely pathogenic ★★ ⚠ same type
- GNB1 p.Asp118Gly Pathogenic ★★ same type
- GNB1 p.Asp118His Likely pathogenic ★★ same type
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/gnb1-p-arg96 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown