ACTG1 p.Ser234=
c.702T>C · rs1568061170 · VCV1879387
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, 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 -1.1 | GERP -3.6 |
| Overall | ||
| CADD | 3.126 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,052 alleles
Overall
0.000137%
2/1,461,506 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00133% | 75,052 |
| European (non-Finnish) | 8.47e-05% | 1,180,030 |
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
- ACTG1
- Protein
- p.Ser234=
- Coding
- c.702T>C
- MANE Select
- NM_001614
- dbSNP
- rs1568061170
- Type
- single nucleotide variant
- Location
- chr17:81511288 (GRCh38)
- Gene constraint
- LOEUF 0.617 · pLI 0.46 (gnomAD)
- Structure
- AlphaFold pLDDT 95.44 · 11 PDB
Similar variants
- ACTG1 p.Ser234Phe Uncertain significance ★ ⚠ same residue
- ACTG1 p.Ala135Val Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Ala204Gly Likely pathogenic ★★ same type
- ACTG1 p.Arg183Gln Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Arg183Trp Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Arg206Gln Pathogenic/Likely pathogenic ★★ same type
- ACTG1 p.Arg210Cys Pathogenic ★★ same type
- ACTG1 p.Arg254Trp 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/actg1-p-ser234 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown