Is DMD p.Arg3384fs (c.10150del) pathogenic?

DMD p.Arg3384fs (c.10150del) is classified Pathogenic/Likely pathogenic in DMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-08-22). Absent from gnomAD; Associated with Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency.

How common is DMD p.Arg3384fs (c.10150del) in the general population?

DMD p.Arg3384fs (c.10150del) is absent from gnomAD (gnomAD).

DMD p.Arg3384fs

Q: What condition is associated with DMD p.Arg3384fs (c.10150del)?

DMD p.Arg3384fs (c.10150del) is associated with Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency (ClinVar).

c.10150del · rs886039663 · VCV265606

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 70 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6	GERP 2.5, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DMD
Protein: p.Arg3384fs
Coding: c.10150del
MANE Select: NM_004006
dbSNP: rs886039663
Type: Deletion
Location: chrX:31178742 (GRCh38)
Residue 3384: the 'interaction with synm' region

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

Disease context

Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency

Similar variants

DMD p.Pro3484_Leu3485insTer Pathogenic ★★ same condition
DMD p.Ser1513fs Pathogenic ★★ same condition
DMD c.1483-8_1500del Likely pathogenic ★ same condition
DMD c.1812+1del Pathogenic ★ same condition
DMD c.264_264+4del Pathogenic ★ same condition
DMD c.6118-2del Pathogenic ★ same condition
DMD c.8547+1del Likely pathogenic ★ same condition
DMD c.8905_8937+7del 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-arg3384fs (accessed [today's date]).

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