DMD p.Leu169=
c.505T>C · rs2148806109 · VCV1575701
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Duchenne muscular dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.4 | GERP 2.4, phastCons 1 |
| Overall | ||
| CADD | 9.131 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DMD
- Protein
- p.Leu169=
- Coding
- c.505T>C
- MANE Select
- NM_004006
- dbSNP
- rs2148806109
- Type
- single nucleotide variant
- Location
- chrX:32816493 (GRCh38)
- Residue 169
- an α-helix; the calponin-homology (ch) 2 domain; the 'actin-binding' region
Disease context
Duchenne muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Duchenne muscular dystrophy (Orphanet):
- Inheritance
- X-linked recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 100 000 (Worldwide)
Similar variants
- DMD p.Leu169fs Likely pathogenic ★ same residue
- DMD c.10086+1G>A Pathogenic ★★ same condition
- DMD c.10086+1G>T Pathogenic ★★ same condition
- DMD c.10086+2T>C Pathogenic ★★ same condition
- DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same condition
- DMD c.10223+1G>A Pathogenic ★★ same condition
- DMD c.10223+1G>C Pathogenic ★★ same condition
- DMD c.10224-2A>G 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-leu169 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown