DMD p.Val92=
c.276G>A · rs398123906 · VCV94533
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000226%, nfe)
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 1.1 | GERP -0.22, phastCons 1 |
| Overall | ||
| CADD | 10.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000226%
European (non-Finnish) · 2/886,673 alleles
Filtering AF
3.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.4e-05%
Overall
0.000166%
2/1,201,399 alleles · very rare
exomes 2/1,088,129 · genomes 0/113,270 · joint denominator
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
- DMD
- Protein
- p.Val92=
- Coding
- c.276G>A
- MANE Select
- NM_004006
- dbSNP
- rs398123906
- Type
- single nucleotide variant
- Location
- chrX:32823376 (GRCh38)
- Residue 92
- the calponin-homology (ch) 1 domain; the 'actin-binding' region
Similar variants
- DMD p.Val92Glu Uncertain significance ★★ ⚠ same residue
- DMD c.10086+1G>A Pathogenic ★★ same type
- DMD c.10086+1G>T Pathogenic ★★ same type
- DMD c.10086+2T>C Pathogenic ★★ same type
- DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same type
- DMD c.10223+1G>A Pathogenic ★★ same type
- DMD c.10223+1G>C Pathogenic ★★ same type
- DMD c.10224-2A>G 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/dmd-p-val92 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown