Is DMD p.Arg3232His (c.9695G>A) pathogenic?

DMD p.Arg3232His (c.9695G>A) is classified Uncertain significance in DMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-05-15). AlphaMissense: ambiguous (0.476); Ultra-rare (popmax 0.0123%, sas); Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Arg3232His (c.9695G>A)?

DMD p.Arg3232His (c.9695G>A) is associated with Duchenne muscular dystrophy, cardiomyopathy, Becker muscular dystrophy (ClinVar).

How common is DMD p.Arg3232His (c.9695G>A) in the general population?

DMD p.Arg3232His (c.9695G>A) is ultra-rare (popmax 0.0123%, sas) (gnomAD).

How is Duchenne muscular dystrophy inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

What do computational predictors say about DMD p.Arg3232His (c.9695G>A)?

AlphaMissense predicts ambiguous (score 0.476) — an in-silico prediction, not a clinical call.

DMD p.Arg3232His

c.9695G>A · rs751095907 · VCV582901

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

AlphaMissense

ambiguous

0.476 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0123%, sas)

Conditions

Duchenne muscular dystrophy

Computational evidence

Protein change
AlphaMissense	0.476	ambiguous
REVEL	0.784	moderately pathogenic-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.7	GERP 2.5, phastCons 1
Regional constraint	o/e 0.66	unconstrained · MANE · 170 kb · p 2.6e-08 · regional, not allelic
Overall
CADD	28.1	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 0.0123% South Asian · 7/56,738 alleles

Filtering AF 0.00571% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00408%

Overall 0.000992% 12/1,209,180 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0123%	8,105
Remaining individualsnot grpmax-eligible	0.0021%	47,586
African / African-American	0.00175%	57,163
European (non-Finnish)	0.000335%	298,149

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.Arg3232His
Coding: c.9695G>A
MANE Select: NM_004006
dbSNP: rs751095907
Type: single nucleotide variant
Location: chrX:31204073 (GRCh38)
Residue 3232: an α-helix; the 'interaction with synm' region

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

Disease context

Duchenne muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cardiomyopathy Becker muscular dystrophy

For Duchenne muscular dystrophy (Orphanet):

Inheritance: X-linked recessive
Onset: Childhood
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

DMD p.Arg3232Cys Uncertain significance ★★ ⚠ same residue
DMD p.Arg3232Gly Uncertain significance ★ ⚠ 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-arg3232his (accessed [today's date]).

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