PAX7 p.Arg97=
c.291G>A · rs550466055 · VCV3050695
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.008%, afr)
Conditions
1
PAX7-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 1.1 | GERP -2.4, phastCons 1 |
| Overall | ||
| CADD | 10.09 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.008%
African / African-American · 6/74,960 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00228%
Overall
0.000434%
7/1,613,940 alleles · very rare
exomes 2/1,461,690 · genomes 5/152,250 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.008% | 12,493 |
| European (non-Finnish) | 8.47e-05% | 1,180,050 |
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.Arg97=
- Coding
- c.291G>A
- MANE Select
- NM_001135254
- dbSNP
- rs550466055
- Type
- single nucleotide variant
- Location
- chr1:18634508 (GRCh38)
- Gene constraint
- LOEUF 0.504 · pLI 0.98 (gnomAD)
- Structure
- AlphaFold pLDDT 63.21
- Residue 97
- a DNA-binding region; a UniProt-annotated variant site (in cmyo19); the 'sufficient to mediate interaction with paxbp1' region
Disease context
PAX7-related disorder
Similar variants
- PAX7 c.1155+3A>G Likely benign same condition
- PAX7 p.Ala395= Likely benign same condition
- PAX7 p.Ala63= Likely benign same condition
- PAX7 p.Glu92= Likely benign same condition
- PAX7 p.Gly193= Likely benign same condition
- PAX7 p.Thr299= Likely benign same condition
- PAX7 p.Thr481fs Uncertain significance ★ same condition
- PAX7 p.Arg74Ter 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/pax7-p-arg97 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown