DMD p.Glu1714fs
c.5140del · VCV4949562
Pathogenic
Single submitter
Classification
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 36 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.8, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Glu1714fs
- Coding
- c.5140del
- MANE Select
- NM_004006
- Type
- Deletion
- Location
- chrX:32364596 (GRCh38)
- Residue 1714
- the 'interaction with synm' region
Disease context
DMD-related disorder
Similar variants
- DMD p.Glu1714Gln Uncertain significance ⚠ same residue
- DMD p.Arg3384fs Pathogenic/Likely pathogenic ★★ same condition
- DMD p.Glu1714Ter Pathogenic ★★ same residue
- DMD p.Pro3484_Leu3485insTer Pathogenic ★★ same condition
- DMD p.Ser1513fs Pathogenic ★★ same condition
- DMD c.1483-8_1500del Likely pathogenic ★ same condition
- DMD c.1812+1del Pathogenic ★ same condition
- DMD c.264_264+4del 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-glu1714fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown