ACTG2 c.*8A>G
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 6.54%, afr) — too common for a highly-penetrant pathogenic allele
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 0.62 | GERP -4.3, phastCons 0.003 |
| Non-coding constraint | Z 3.63 | 1 kb window · o/e 0.72 · regional · uncalibrated |
| Overall | ||
| CADD | 6.58 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.54%
African / African-American · 4,907/74,982 alleles
Filtering AF
6.39%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.33%
Overall
0.338%
5,454/1,613,486 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.54% | 15 |
| Remaining individualsnot grpmax-eligible | 0.399% | 251 |
| Admixed American | 0.339% | 295 |
| Middle Eastern | 0.165% | 605 |
| South Asian | 0.0143% | 7,001 |
| European (non-Finnish) | 0.0061% | 16,386 |
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
- ACTG2
- Coding
- c.*8A>G
- MANE Select
- NM_001615
- dbSNP
- rs111474892
- Type
- single nucleotide variant
- Location
- chr2:73919583 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 95.46 · 4 PDB
Similar variants
- ACTG2 p.Ala205Thr Pathogenic ★★ same type
- ACTG2 p.Arg148Cys Likely pathogenic ★★ same type
- ACTG2 p.Arg178Cys Pathogenic ★★ same type
- ACTG2 p.Arg178His Pathogenic ★★ same type
- ACTG2 p.Arg178Leu Pathogenic ★★ same type
- ACTG2 p.Arg211Gln Pathogenic/Likely pathogenic ★★ same type
- ACTG2 p.Arg257Cys Pathogenic ★★ same type
- ACTG2 p.Arg257His 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/actg2-c-star-8a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown