Is DMD p.Gln1885Ter (c.5653C>T) pathogenic?

DMD p.Gln1885Ter (c.5653C>T) is classified Pathogenic in DMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2022-05-04). Very rare (popmax 0.00219%, amr); Associated with Becker muscular dystrophy.

What condition is associated with DMD p.Gln1885Ter (c.5653C>T)?

DMD p.Gln1885Ter (c.5653C>T) is associated with Becker muscular dystrophy, Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Gln1885Ter (c.5653C>T) in the general population?

DMD p.Gln1885Ter (c.5653C>T) is very rare (popmax 0.00219%, amr) (gnomAD).

How is Becker muscular dystrophy inherited?

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

DMD p.Gln1885Ter

c.5653C>T · rs1295935628 · VCV936227

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00219%, amr)

Conditions

Becker muscular dystrophy

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 40 of 79
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2.9, phastCons 1
Overall
CADD	43.0	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

Grpmax group 0.00219% Admixed American · 1/45,574 alleles

Overall 0.000903% 1/110,702 alleles · very rare

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.Gln1885Ter
Coding: c.5653C>T
MANE Select: NM_004006
dbSNP: rs1295935628
Type: single nucleotide variant
Location: chrX:32343220 (GRCh38)
Residue 1885: the 'interaction with synm' region

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

Disease context

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

Also linked: Duchenne muscular dystrophy

For Becker muscular dystrophy (Orphanet):

Inheritance: X-linked recessive
Onset: Adolescent, Adult, Childhood, Elderly
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

DMD p.Gln1885Lys Uncertain significance ★ ⚠ same residue
DMD p.Gln1885His Uncertain significance ★ ⚠ same residue
DMD p.Gln1885Leu Uncertain significance ★ ⚠ same residue
DMD p.Gln1885= 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

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-gln1885ter (accessed [today's date]).

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