PAX7 p.Arg136=
c.408G>A · rs72937282 · VCV775519
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.72%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -0.94, phastCons 1 |
| Overall | ||
| CADD | 8.395 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.72%
African / African-American · 1,289/75,030 alleles
Filtering AF
1.64%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.61%
Overall
0.0983%
1,587/1,614,016 alleles · low-frequency
exomes 823/1,461,718 · genomes 764/152,298 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.72% | 58 |
| Admixed American | 0.197% | 509 |
| Remaining individualsnot grpmax-eligible | 0.163% | 613 |
| Middle Eastern | 0.099% | 1,010 |
| European (non-Finnish) | 0.00593% | 16,857 |
| East Asian | 0.00223% | 44,864 |
| South Asian | 0.0011% | 91,064 |
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
- PAX7
- Protein
- p.Arg136=
- Coding
- c.408G>A
- MANE Select
- NM_001135254
- dbSNP
- rs72937282
- Type
- single nucleotide variant
- Location
- chr1:18635197 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 63.21
- Residue 136
- a DNA-binding region; a UniProt-annotated variant site (in cmyo19); the 'sufficient to mediate interaction with paxbp1' region; the 'red subdomain' region
Similar variants
- PAX7 p.Arg74Ter Pathogenic/Likely pathogenic ★★ same type
- PAX7 c.587-8G>A Uncertain significance ★★ same type
- PAX7 p.Ala235Thr Uncertain significance ★★ ⚠ same type
- PAX7 p.Arg215His Uncertain significance ★★ ⚠ same type
- PAX7 p.Glu201Gly Uncertain significance ★★ same type
- PAX7 p.Pro112Leu Uncertain significance ★★ ⚠ same type
- PAX7 c.1155+9T>C Benign ★★ same type
- PAX7 p.Ala259= Benign ★★ 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/pax7-p-arg136 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown