ACSM4 p.Pro47=
c.141A>G · VCV3482965
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.02%, amr)
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 -4.8 | GERP -4.2 |
| Overall | ||
| CADD | 0.04 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.02%
Admixed American · 12/60,008 alleles
Filtering AF
0.0115%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00898%
Overall
0.00124%
20/1,613,870 alleles · ultra-rare
exomes 13/1,461,660 · genomes 7/152,210 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.02% | 5,001 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,492 |
| African / African-American | 0.00267% | 37,466 |
| South Asian | 0.0011% | 91,092 |
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
- ACSM4
- Protein
- p.Pro47=
- Coding
- c.141A>G
- MANE Select
- NM_001080454
- Type
- single nucleotide variant
- Location
- chr12:7304472 (GRCh38)
- Gene constraint
- LOEUF 1.072 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.38
Similar variants
- ACSM4 p.Ala101Thr Uncertain significance ★ ⚠ same type
- ACSM4 p.Ala118Val Uncertain significance ★ ⚠ same type
- ACSM4 p.Ala150Val Uncertain significance ★ ⚠ same type
- ACSM4 p.Ala40Val Uncertain significance ★ ⚠ same type
- ACSM4 p.Arg136Gln Uncertain significance ★ ⚠ same type
- ACSM4 p.Arg156Gln Uncertain significance ★ same type
- ACSM4 p.Arg21Gln Uncertain significance ★ ⚠ same type
- ACSM4 p.Arg22Cys Uncertain significance ★ ⚠ 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/acsm4-p-pro47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown