Is DMD p.Arg2524His (c.7571G>A) pathogenic?

DMD p.Arg2524His (c.7571G>A) is classified Benign/Likely benign in DMD (ClinVar, Multiple submitters, 13 submitters; last evaluated 2026-02-04). AlphaMissense: likely benign (0.0741); Rare (popmax 0.355%, afr); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Arg2524His (c.7571G>A)?

DMD p.Arg2524His (c.7571G>A) is associated with Cardiovascular phenotype, cardiomyopathy, dilated cardiomyopathy (ClinVar).

How common is DMD p.Arg2524His (c.7571G>A) in the general population?

DMD p.Arg2524His (c.7571G>A) is rare (popmax 0.355%, afr) (gnomAD).

What do computational predictors say about DMD p.Arg2524His (c.7571G>A)?

AlphaMissense predicts likely benign (score 0.0741) — an in-silico prediction, not a clinical call.

DMD p.Arg2524His

c.7571G>A · rs151244052 · VCV161219

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 13 submitters

AlphaMissense

likely benign

0.0741 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.355%, afr)

Missense predictors

0/2 damaging

AlphaMissense, REVEL

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.0741	likely benign
REVEL	0.111	moderately benign-leaning
⇒ AlphaMissense and REVEL both call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.2	GERP 0.78, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	21.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.355% African / African-American · 203/57,108 alleles

Filtering AF 0.315% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.3%

Overall 0.0196% 237/1,209,257 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.355%	281
Remaining individualsnot grpmax-eligible	0.0231%	4,326
Middle Eastern	0.023%	4,349
Admixed American	0.00656%	15,239
South Asian	0.00352%	28,392
Finnishnot grpmax-eligible	0.00215%	46,542
European (non-Finnish)	0.00179%	55,919

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.Arg2524His
Coding: c.7571G>A
MANE Select: NM_004006
dbSNP: rs151244052
Type: single nucleotide variant
Location: chrX:31729720 (GRCh38)

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cardiomyopathy dilated cardiomyopathy Becker muscular dystrophy dilated cardiomyopathy 3B Duchenne muscular dystrophy muscular dystrophy

Similar variants

DMD p.Arg2524Cys Uncertain significance ★★ ⚠ same residue
DMD p.Arg2524= Likely benign ★ 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

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-arg2524his (accessed [today's date]).

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