ACTG2 p.Asp82=
c.246C>T · rs143614519 · VCV712354
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.299%, afr)
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 6 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 13.78 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.299%
African / African-American · 224/75,036 alleles
Filtering AF
0.266%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.254%
Overall
0.0154%
248/1,614,100 alleles · rare
exomes 111/1,461,870 · genomes 137/152,230 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.299% | 335 |
| Admixed American | 0.0233% | 4,286 |
| Remaining individualsnot grpmax-eligible | 0.0144% | 6,944 |
| European (non-Finnish) | 8.47e-05% | 1,180,013 |
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.Asp82=
- Coding
- c.246C>T
- MANE Select
- NM_001615
- dbSNP
- rs143614519
- Type
- single nucleotide variant
- Location
- chr2:73902479 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 95.46 · 4 PDB
- Residue 82
- an α-helix
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-p-asp82 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown