GNB2 p.Asp247=
c.741C>T · VCV4897131
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.264%, mid)
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 -9 | GERP -10 |
| Overall | ||
| CADD | 4.841 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.264%
Middle Eastern · 16/6,062 alleles
Filtering AF
0.165%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.135%
Overall
0.00353%
57/1,613,628 alleles · rare
exomes 45/1,461,270 · genomes 12/152,358 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.264% | 379 |
| Remaining individualsnot grpmax-eligible | 0.0096% | 10,416 |
| African / African-American | 0.00666% | 15,012 |
| European (non-Finnish) | 0.00229% | 43,702 |
| East Asian | 0.00223% | 44,886 |
| South Asian | 0.0022% | 45,546 |
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.Asp247=
- Coding
- c.741C>T
- MANE Select
- NM_005273
- Type
- single nucleotide variant
- Location
- chr7:100678439 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 96.89 · 1 PDB
Similar variants
- GNB2 p.Asp247Ala Uncertain significance ★ ⚠ same residue
- 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
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-asp247 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown