DMD p.Val2365=
c.7095T>C · VCV4066031
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000112%, nfe)
Conditions
1
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
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 2.3 | GERP -4.2, phastCons 1 |
| Overall | ||
| CADD | 1.199 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000112%
European (non-Finnish) · 1/891,795 alleles
Overall
8.3e-05%
1/1,205,053 alleles · very rare
exomes 1/1,091,209 · genomes 0/113,844 · 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.Val2365=
- Coding
- c.7095T>C
- MANE Select
- NM_004006
- Type
- single nucleotide variant
- Location
- chrX:31875191 (GRCh38)
- Residue 2365
- a UniProt-annotated variant site (in dmd)
Disease context
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Similar variants
- DMD p.Val2365Ile Benign/Likely benign ★★ same residue
- DMD c.10223+1G>A Pathogenic ★★ same condition
- DMD c.10224-2A>G Likely pathogenic ★★ same condition
- DMD c.10797+1G>A Pathogenic ★★ same condition
- DMD c.1150-1G>A Pathogenic ★★ same condition
- DMD c.1483-1G>A Likely pathogenic ★★ same condition
- DMD c.1603-2A>C Pathogenic/Likely pathogenic ★★ same condition
- DMD c.1705-2A>G Pathogenic/Likely pathogenic ★★ 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/dmd-p-val2365 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown