DMD p.Ile3276=
c.9828C>A · VCV4949512
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -1.2 | GERP -5.9 |
| Overall | ||
| CADD | 0.25 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DMD
- Protein
- p.Ile3276=
- Coding
- c.9828C>A
- MANE Select
- NM_004006
- Type
- single nucleotide variant
- Location
- chrX:31182884 (GRCh38)
- Residue 3276
- the 'interaction with synm' region
Similar variants
- DMD p.Ile3276Met Uncertain significance ★ same residue
- DMD p.Ile3276Val 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
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-ile3276 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown