DMD p.Arg3489fs
c.10464delinsAC · VCV4081328
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 74 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.1 | GERP 0.74, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Arg3489fs
- Coding
- c.10464delinsAC
- MANE Select
- NM_004006
- Type
- Indel
- Location
- chrX:31169532 (GRCh38)
- Residue 3489
- the 'binds to sntb1' region
Similar variants
- DMD p.Arg3489Cys Conflicting classifications of pathogenicity ★ same residue
- DMD p.Arg3489His Uncertain significance ★ same residue
- DMD c.8391-1_8391delinsAA Pathogenic/Likely pathogenic ★★ same type
- DMD p.Glu5fs Pathogenic ★★ same type
- DMD p.Met1313_Arg1314delinsIleTer Pathogenic/Likely pathogenic ★★ same type
- DMD p.Glu2854Thr Uncertain significance ★★ same type
- DMD p.Ser2464Ile Uncertain significance ★★ same type
- DMD c.832-18_832-17delinsGA Benign/Likely benign ★★ 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-arg3489fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown