ACACB p.Glu2420=
c.7260A>G · rs148418026 · VCV774902
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.125%, nfe)
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 -0.39 | GERP -3.6, phastCons 0.004 |
| Overall | ||
| CADD | 0.959 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.125%
European (non-Finnish) · 1,470/1,179,588 alleles
Filtering AF
0.119%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.117%
Overall
0.0981%
1,582/1,613,032 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.125% | 802 |
| Remaining individualsnot grpmax-eligible | 0.08% | 1,249 |
| Admixed American | 0.0767% | 1,303 |
| African / African-American | 0.0213% | 4,684 |
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
- ACACB
- Protein
- p.Glu2420=
- Coding
- c.7260A>G
- MANE Select
- NM_001093
- dbSNP
- rs148418026
- Type
- single nucleotide variant
- Location
- chr12:109266245 (GRCh38)
- Gene constraint
- LOEUF 0.843 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.29 · 11 PDB
- Residue 2420
- an α-helix
Similar variants
- ACACB p.Val958Met Uncertain significance ★★ ⚠ same type
- ACACB c.6942+9C>T Benign ★★ same type
- ACACB c.6943-8G>A Benign ★★ same type
- ACACB c.7113+7C>T Benign/Likely benign ★★ same type
- ACACB p.Ala650= Likely benign ★★ same type
- ACACB p.Arg1786Gln Likely benign ★★ ⚠ same type
- ACACB p.Asp1481Val Benign/Likely benign ★★ ⚠ same type
- ACACB p.Gln1257Glu Benign ★★ 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/acacb-p-glu2420 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown