Is DMD p.Asp758= (c.2274C>T) pathogenic?

DMD p.Asp758= (c.2274C>T) is classified Likely benign in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2026-02-01). Very rare (popmax 0.000559%, nfe).

How common is DMD p.Asp758= (c.2274C>T) in the general population?

DMD p.Asp758= (c.2274C>T) is very rare (popmax 0.000559%, nfe) (gnomAD).

DMD p.Asp758=

c.2274C>T · VCV4822467

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000559%, nfe)

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 0.2	GERP 3, phastCons 0.85
Overall
CADD	5.894	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000559% European (non-Finnish) · 5/894,428 alleles

Filtering AF 0.000164% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000119%

Overall 0.000456% 5/1,097,092 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.Asp758=
Coding: c.2274C>T
MANE Select: NM_004006
Type: single nucleotide variant
Location: chrX:32518026 (GRCh38)

Full DMD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DMD p.Asp758Gly Uncertain significance ★★ ⚠ same residue
DMD p.Asp758Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
DMD p.Asp758Tyr Uncertain significance ★ ⚠ same residue
DMD c.10086+1G>A Pathogenic ★★ same type
DMD c.10086+1G>T Pathogenic ★★ same type
DMD c.10086+2T>C Pathogenic ★★ same type
DMD c.10087-2A>G Pathogenic/Likely pathogenic ★★ same type
DMD c.10223+1G>A 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-asp758 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown