DMD p.Gln3050=
c.9150G>A · rs1352900858 · VCV594077
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00173%, afr)
Conditions
2
Cardiovascular phenotype
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.058 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP -0.069, phastCons 1 |
| Overall | ||
| CADD | 5.754 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00173%
African / African-American · 1/57,831 alleles
Overall
9.12e-05%
1/1,096,899 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DMD
- Protein
- p.Gln3050=
- Coding
- c.9150G>A
- MANE Select
- NM_004006
- dbSNP
- rs1352900858
- Type
- single nucleotide variant
- Location
- chrX:31348569 (GRCh38)
- Residue 3050
- an α-helix
Similar variants
- DMD p.Gln3050Ter Pathogenic ★★ same residue
- DMD p.Gln3050His Uncertain significance ★ same residue
- DMD p.Gln3050fs 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
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-gln3050 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown