ACTG2 p.Ala205=
c.615T>G · rs1680222223 · VCV2651032
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00231%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>A here scores Δ0.94 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -8.6 | GERP -4.6 |
| Overall | ||
| CADD | 2.759 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00231%
East Asian · 1/43,250 alleles
Filtering AF
0.00132%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0011%
Overall
0.00159%
25/1,576,450 alleles · very rare
exomes 24/1,424,326 · genomes 1/152,124 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00231% | 43,250 |
| European (non-Finnish) | 0.00198% | 50,425 |
| Finnishnot grpmax-eligible | 0.00159% | 62,898 |
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.Ala205=
- Coding
- c.615T>G
- MANE Select
- NM_001615
- dbSNP
- rs1680222223
- Type
- single nucleotide variant
- Location
- chr2:73914681 (GRCh38)
- Gene constraint
- LOEUF 0.626 · pLI 0.28 (gnomAD)
- Structure
- AlphaFold pLDDT 95.46 · 4 PDB
- Residue 205
- an α-helix
Similar variants
- ACTG2 p.Ala205Thr Pathogenic ★★ same residue
- ACTG2 p.Ala205Asp Uncertain significance ★★ ⚠ same residue
- ACTG2 p.Ala205Val Uncertain significance ★ ⚠ same residue
- 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
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-ala205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown