GNB3 p.Thr243=
c.729G>A · rs147480203 · VCV774817
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.831%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.2 | GERP -5.1 |
| Overall | ||
| CADD | 1.095 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.831%
South Asian · 757/91,086 alleles
Filtering AF
0.782%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.762%
Overall
0.175%
2,824/1,612,744 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.831% | 120 |
| Ashkenazi Jewishnot grpmax-eligible | 0.419% | 239 |
| Middle Eastern | 0.231% | 433 |
| Remaining individualsnot grpmax-eligible | 0.197% | 508 |
| European (non-Finnish) | 0.146% | 686 |
| Admixed American | 0.08% | 1,250 |
| African / African-American | 0.0347% | 2,886 |
| Finnishnot grpmax-eligible | 0.0175% | 5,714 |
| East Asian | 0.00223% | 44,870 |
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
- GNB3
- Protein
- p.Thr243=
- Coding
- c.729G>A
- MANE Select
- NM_031299 · reported on NM_002075
- dbSNP
- rs147480203
- Type
- single nucleotide variant
- Location
- chr12:6845615 (GRCh38)
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/gnb3-p-thr243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown