DMD p.Ile749fs
c.2243_2244insCC · rs2525546306 · VCV2439742
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.41 | GERP -0.39, phastCons 0.54 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DMD
- Protein
- p.Ile749fs
- Coding
- c.2243_2244insCC
- MANE Select
- NM_004006
- dbSNP
- rs2525546306
- Type
- Insertion
- Location
- chrX:32518056 (GRCh38)
Similar variants
- DMD p.Ile749= Likely benign ★★ same residue
- DMD p.Ile749Val Conflicting classifications of pathogenicity ★ ⚠ same residue
- DMD p.Ile245fs Pathogenic ★★ same type
- DMD p.Ala3421delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisLysAlaSerIleValIleLeuAlaArgSerGlnTer Pathogenic ★ same type
- DMD p.Arg1324fs Pathogenic ★ same type
- DMD p.Arg3345fs Likely pathogenic ★ same type
- DMD p.Asn809fs Pathogenic ★ same type
- DMD p.Gln1113fs 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-ile749fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown