Is DMD p.Thr161del (c.479CCA[1]) pathogenic?

DMD p.Thr161del (c.479CCA[1]) is classified Pathogenic/Likely pathogenic in DMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-02-20). Absent from gnomAD; Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Thr161del (c.479CCA[1])?

DMD p.Thr161del (c.479CCA[1]) is associated with Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Thr161del (c.479CCA[1]) in the general population?

DMD p.Thr161del (c.479CCA[1]) is absent from gnomAD (gnomAD).

How is Duchenne muscular dystrophy inherited?

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

DMD p.Thr161del

c.479CCA[1] · rs1569528101 · VCV572489

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Duchenne muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.6	GERP 2.4, phastCons 1

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.Thr161del
Coding: c.479CCA[1]
MANE Select: NM_004006
dbSNP: rs1569528101
Type: Microsatellite
Location: chrX:32816514 (GRCh38)
Residue 161: an α-helix; the calponin-homology (ch) 2 domain; the 'actin-binding' 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

For Duchenne muscular dystrophy (Orphanet):

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

Similar variants

DMD p.Thr161= Likely benign ★ same residue
DMD p.Arg2205fs Pathogenic/Likely pathogenic ★★ same condition
DMD p.Arg822fs Pathogenic/Likely pathogenic ★★ same condition
DMD p.Arg978fs Pathogenic/Likely pathogenic ★★ same condition
DMD p.Asn2991fs Pathogenic ★★ same condition
DMD p.Asn3068fs Pathogenic ★★ same condition
DMD p.Asn837fs Pathogenic ★★ same condition
DMD p.Gln2131fs 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-thr161del (accessed [today's date]).

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