ACTN3 p.Ser370=
c.1110C>T · rs144546392 · VCV3037441
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.61%, amr)
Conditions
1
ACTN3-related disorder
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 -12 | GERP -4.8 |
| Overall | ||
| CADD | 3.314 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.61%
Admixed American · 1,480/56,810 alleles
Filtering AF
2.49%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.45%
Overall
0.139%
2,187/1,575,340 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 2.61% | 38 |
| East Asian | 1.28% | 78 |
| Remaining individualsnot grpmax-eligible | 0.108% | 922 |
| African / African-American | 0.0295% | 3,389 |
| South Asian | 0.0152% | 6,595 |
| European (non-Finnish) | 0.00526% | 19,014 |
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
- ACTN3
- Protein
- p.Ser370=
- Coding
- c.1110C>T
- MANE Select
- NM_001104
- dbSNP
- rs144546392
- Type
- single nucleotide variant
- Location
- chr11:66557911 (GRCh38)
- Gene constraint
- LOEUF 0.944 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.61 · 3 PDB
Disease context
ACTN3-related disorder
Similar variants
- ACTN3 c.1129-8C>T Likely benign same condition
- ACTN3 c.1678-8G>A Benign same condition
- ACTN3 p.Ala417Ser Benign same condition
- ACTN3 p.Ala469= Likely benign same condition
- ACTN3 p.Ala492= Likely benign same condition
- ACTN3 p.Ala564= Likely benign same condition
- ACTN3 p.Ala881Ser Likely benign same condition
- ACTN3 p.Arg199Gln Likely benign 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/actn3-p-ser370 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown