BAX p.Gly23=
c.69G>A · rs140986746 · VCV784551
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.153%, 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 4.8 | phastCons 1 |
| Overall | ||
| CADD | 14.55 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.153%
Admixed American · 92/59,990 alleles
Filtering AF
0.128%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.119%
Overall
0.0888%
1,433/1,613,856 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.153% | 652 |
| Amishnot grpmax-eligible | 0.11% | 912 |
| European (non-Finnish) | 0.104% | 960 |
| Remaining individualsnot grpmax-eligible | 0.0832% | 1,202 |
| South Asian | 0.045% | 2,220 |
| African / African-American | 0.0173% | 5,769 |
| Middle Eastern | 0.0165% | 6,062 |
| Finnishnot grpmax-eligible | 0.00625% | 16,005 |
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
- BAX
- Protein
- p.Gly23=
- Coding
- c.69G>A
- MANE Select
- NM_138761
- dbSNP
- rs140986746
- Type
- single nucleotide variant
- Location
- chr19:48955582 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.71 · 37 PDB
- Residue 23
- an α-helix
Similar variants
- BAX p.Asp102= Benign ★★ same type
- BAX c.474+151G>A Uncertain significance ★ same type
- BAX c.474+20C>A Uncertain significance ★ same type
- BAX c.474+34C>T Uncertain significance ★ same type
- BAX c.474+76G>A Uncertain significance ★ same type
- BAX c.474+95G>C Uncertain significance ★ same type
- BAX p.Ala81Pro Uncertain significance ★ ⚠ same type
- BAX p.Arg134Gly Uncertain significance ★ ⚠ 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/bax-p-gly23 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown