DMD p.Leu2185fs
c.6554dup · VCV4081331
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 45 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.82 | GERP 1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Leu2185fs
- Coding
- c.6554dup
- MANE Select
- NM_004006
- Type
- Duplication
- Location
- chrX:31968398 (GRCh38)
Similar variants
- DMD p.Leu2185= Likely benign ★ same residue
- DMD p.Leu2185Met Uncertain significance same residue
- DMD c.10224-1dup Pathogenic ★★ same type
- DMD c.3603+2dup Pathogenic ★★ same type
- DMD c.8548-2_8549dup Likely pathogenic ★★ same type
- DMD c.9649+2dup Likely pathogenic ★★ same type
- DMD p.Ala1872fs Pathogenic ★★ same type
- DMD p.Asn1820fs 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-leu2185fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown