ACTA2 p.Met307fs
c.921_922del · VCV4908638
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ACTA2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 8 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ACTA2
- Protein
- p.Met307fs
- Coding
- c.921_922del
- MANE Select
- NM_001613
- Type
- Deletion
- Location
- chr10:88938129 (GRCh38)
- Gene constraint
- LOEUF 0.472 · pLI 0.99 · ClinGen HI 1/3 (gnomAD)
- Structure
- AlphaFold pLDDT 95.43
Disease context
ACTA2-related disorder
Similar variants
- ACTA2 c.130-2del Pathogenic/Likely pathogenic ★★ same condition
- ACTA2 p.Met307Thr Uncertain significance ★★ ⚠ same residue
- ACTA2 p.Met307Val Uncertain significance ★★ ⚠ same residue
- ACTA2 c.991-1del Likely pathogenic ★ same condition
- ACTA2 p.Arg118Gln Pathogenic/Likely pathogenic ★★ same condition
- ACTA2 p.Arg149Cys Pathogenic ★★ same condition
- ACTA2 p.Arg198Cys Pathogenic/Likely pathogenic ★★ same condition
- ACTA2 p.Arg256Cys Likely pathogenic ★★ ⚠ same condition
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/acta2-p-met307fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown