Is DMD p.Arg2680Ter (c.8038C>T) pathogenic?

DMD p.Arg2680Ter (c.8038C>T) is classified Pathogenic in DMD (ClinVar, Multiple submitters, 8 submitters; last evaluated 2025-03-10). Absent from gnomAD v4.1; Associated with Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency.

What condition is associated with DMD p.Arg2680Ter (c.8038C>T)?

DMD p.Arg2680Ter (c.8038C>T) is associated with Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency, Duchenne muscular dystrophy, neuromuscular disease caused by qualitative or quantitative defects of dystrophin (ClinVar).

How common is DMD p.Arg2680Ter (c.8038C>T) in the general population?

DMD p.Arg2680Ter (c.8038C>T) is absent from gnomAD v4.1 (gnomAD).

DMD p.Arg2680Ter

c.8038C>T · rs863225011 · VCV217213

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,205,238)

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	nonsense (stop-gain)	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 55 of 79
REVEL	0.029	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.7	GERP 0.79, phastCons 0.68
Overall
CADD	36.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,205,238). 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.Arg2680Ter
Coding: c.8038C>T
MANE Select: NM_004006
dbSNP: rs863225011
Type: single nucleotide variant
Location: chrX:31627852 (GRCh38)

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

Also linked: Duchenne muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of dystrophin

Similar variants

DMD p.Arg2680Gly Uncertain significance ★ same residue
DMD p.Arg2680Leu Uncertain significance ★ same residue
DMD p.Arg2680= 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

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-arg2680ter (accessed [today's date]).

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