Is DMD p.Gln2940Ter (c.8818C>T) pathogenic?

DMD p.Gln2940Ter (c.8818C>T) is classified Likely pathogenic in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2025-07-24). Absent from gnomAD v4.1; Associated with X-linked DMD-related disorders.

What condition is associated with DMD p.Gln2940Ter (c.8818C>T)?

DMD p.Gln2940Ter (c.8818C>T) is associated with X-linked DMD-related disorders (ClinVar).

How common is DMD p.Gln2940Ter (c.8818C>T) in the general population?

DMD p.Gln2940Ter (c.8818C>T) is absent from gnomAD v4.1 (gnomAD).

DMD p.Gln2940Ter

c.8818C>T · VCV4813720

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

X-linked DMD-related disorders

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 59 of 79
REVEL	0.381	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.9	GERP 1.7, phastCons 1
Overall
CADD	40.0	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

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DMD
Protein: p.Gln2940Ter
Coding: c.8818C>T
MANE Select: NM_004006
Type: single nucleotide variant
Location: chrX:31478225 (GRCh38)

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

Disease context

X-linked DMD-related disorders

Similar variants

DMD p.Gln2940Pro Uncertain significance ★ same residue
DMD p.Gln2940= Likely benign ★ same residue
DMD c.10223+1G>A Pathogenic ★★ same condition
DMD c.10224-2A>G Likely pathogenic ★★ same condition
DMD c.10797+1G>A Pathogenic ★★ same condition
DMD c.1150-1G>A Pathogenic ★★ same condition
DMD c.1483-1G>A Likely pathogenic ★★ same condition
DMD c.1603-2A>C Pathogenic/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-gln2940ter (accessed [today's date]).

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