GNB2 p.Glu10=
c.30G>A · VCV4874749
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0369%, 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 12 | GERP 1.7, phastCons 1 |
| Overall | ||
| CADD | 13.95 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0369%
Admixed American · 22/59,588 alleles
Filtering AF
0.025%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.021%
Overall
0.00137%
22/1,608,416 alleles · ultra-rare
exomes 21/1,456,220 · genomes 1/152,196 · joint denominator
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.Glu10=
- Coding
- c.30G>A
- MANE Select
- NM_005273
- Type
- single nucleotide variant
- Location
- chr7:100676295 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 96.89 · 1 PDB
Similar variants
- GNB2 p.Ala73Thr Pathogenic/Likely pathogenic ★★ same type
- GNB2 p.Gly77Glu 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
- GNB2 p.Asn119Lys 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-glu10 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown