Is DMD p.Thr2432fs (c.7295_7296del) pathogenic?

DMD p.Thr2432fs (c.72957296del) is classified Pathogenic/Likely pathogenic in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-07-09). Absent from gnomAD.

How common is DMD p.Thr2432fs (c.7295_7296del) in the general population?

DMD p.Thr2432fs (c.7295_7296del) is absent from gnomAD (gnomAD).

DMD p.Thr2432fs

c.7295_7296del · rs794727746 · VCV197913

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 50 of 79
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -4.3	GERP -4.6

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.Thr2432fs
Coding: c.7295_7296del
MANE Select: NM_004006
dbSNP: rs794727746
Type: Deletion
Location: chrX:31819988 (GRCh38)

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

Similar variants

DMD p.Thr2432= Likely benign ★ same residue
DMD c.1813-29_1813-2del Likely pathogenic ★★ same type
DMD c.2804-1del Pathogenic ★★ same type
DMD c.3276+2del Pathogenic/Likely pathogenic ★★ same type
DMD c.3433-5_3434del Pathogenic ★★ same type
DMD c.4519-2_4523del Pathogenic ★★ same type
DMD c.6438+1_6438+5del Pathogenic ★★ same type
DMD c.9650-4_9655del Likely pathogenic ★★ same type

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-thr2432fs (accessed [today's date]).

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