DMD p.Asp46fs
c.136dup · VCV4949634
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
DMD-related disorder
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 3 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Asp46fs
- Coding
- c.136dup
- MANE Select
- NM_004006
- Type
- Duplication
- Location
- chrX:32849777 (GRCh38)
- Residue 46
- the calponin-homology (ch) 1 domain; a turn; the 'actin-binding' region; a UniProt-annotated variant site (in bmd)
Disease context
DMD-related disorder
Similar variants
- DMD p.Ser3420fs Pathogenic ★★ same condition
- DMD p.Ala3270fs Likely pathogenic ★ same condition
- DMD p.Ala608fs Likely pathogenic ★ same condition
- DMD p.Arg3300fs Likely pathogenic ★ same condition
- DMD p.Glu1798fs Likely pathogenic ★ same condition
- DMD p.Glu336fs Likely pathogenic ★ same condition
- DMD p.Ile1225fs Likely pathogenic ★ same condition
- DMD p.Trp1249fs 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-asp46fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown