ACTG2 p.Ile152=
c.456C>T · rs34286914 · VCV791858
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 8.09%, 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 -11 | GERP -4.6 |
| Overall | ||
| CADD | 2.241 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
8.09%
African / African-American · 6,050/74,780 alleles
Filtering AF
7.92%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 7.85%
Overall
0.435%
6,973/1,603,496 alleles · common
exomes 3,450/1,451,196 · genomes 3,523/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 8.09% | 12 |
| Remaining individualsnot grpmax-eligible | 0.604% | 166 |
| Admixed American | 0.522% | 191 |
| Middle Eastern | 0.497% | 201 |
| South Asian | 0.0222% | 4,509 |
| European (non-Finnish) | 0.0159% | 6,270 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0102% | 9,810 |
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
- Protein
- p.Ile152=
- Coding
- c.456C>T
- MANE Select
- NM_001615
- dbSNP
- rs34286914
- Type
- single nucleotide variant
- Location
- chr2:73913489 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 95.46 · 4 PDB
- Residue 152
- a β-strand
Similar variants
- ACTG2 p.Ile152Asn Uncertain significance ★ ⚠ same residue
- 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
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-p-ile152 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown