GNB2 p.Phe234=
c.702C>T · VCV3352477
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0317%, amr)
Conditions
1
GNB2-related disorder
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 4.1 | GERP 3.7, phastCons 1 |
| Overall | ||
| CADD | 15.84 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0317%
Admixed American · 19/60,004 alleles
Filtering AF
0.0207%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0172%
Overall
0.0013%
21/1,612,826 alleles · ultra-rare
exomes 5/1,460,582 · genomes 16/152,244 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0317% | 3,158 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,454 |
| South Asian | 0.0011% | 91,078 |
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
- GNB2
- Protein
- p.Phe234=
- Coding
- c.702C>T
- MANE Select
- NM_005273
- Type
- single nucleotide variant
- Location
- chr7:100678400 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 96.89 · 1 PDB
Disease context
GNB2-related disorder
Similar variants
- GNB2 p.Gly77Glu Pathogenic/Likely pathogenic ★★ same condition
- GNB2 p.Met263Ile Uncertain significance ★ ⚠ same condition
- GNB2 p.Ala73Thr Pathogenic/Likely pathogenic ★★ same type
- GNB2 p.Thr198Lys Uncertain significance ★★ ⚠ same type
- GNB2 p.Thr50Ile Uncertain significance ★★ ⚠ same type
- GNB2 c.268-11C>G Likely benign ★★ same type
- GNB2 p.Arg129= Likely benign ★★ same type
- GNB2 p.Arg48Gln 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/gnb2-p-phe234 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown