DMD p.Asn2641fs
c.7922del · rs398124059 · VCV94782
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 54 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.94 | GERP 0.036, phastCons 0.98 |
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.Asn2641fs
- Coding
- c.7922del
- MANE Select
- NM_004006
- dbSNP
- rs398124059
- Type
- Deletion
- Location
- chrX:31658095 (GRCh38)
Similar variants
- DMD p.Asn2641= Likely benign ★★ same residue
- DMD p.Asn2641Asp Uncertain significance ★ same residue
- DMD p.Asn2641Ser Uncertain significance ★ ⚠ same residue
- DMD c.1813-29_1813-2del Likely pathogenic ★★ same type
- DMD c.2804-1del Pathogenic ★★ same type
- DMD c.3276+2del Pathogenic/Likely pathogenic ★★ same type
- DMD c.3433-5_3434del Pathogenic ★★ same type
- DMD c.4519-2_4523del 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-asn2641fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown