Is DMD p.Ser2464Ile (c.7390_7391delinsAT) pathogenic?

DMD p.Ser2464Ile (c.73907391delinsAT) is classified Uncertain significance in DMD (ClinVar, Multiple submitters, 4 submitters; last evaluated 2025-10-08). Absent from gnomAD; Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Ser2464Ile (c.7390_7391delinsAT)?

DMD p.Ser2464Ile (c.7390_7391delinsAT) is associated with Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Ser2464Ile (c.7390_7391delinsAT) in the general population?

DMD p.Ser2464Ile (c.7390_7391delinsAT) 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.Ser2464Ile

c.7390_7391delinsAT · rs2530840933 · VCV2159710

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 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 12	GERP 1.5, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic

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.Ser2464Ile
Coding: c.7390_7391delinsAT
MANE Select: NM_004006
dbSNP: rs2530840933
Type: Indel
Location: chrX:31774111 (GRCh38)

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.Ser2464_Leu2465insTer Likely pathogenic ★ same residue
DMD p.Ser2464= Likely benign ★ same residue
DMD c.8391-1_8391delinsAA Pathogenic/Likely pathogenic ★★ same condition
DMD p.Met1313_Arg1314delinsIleTer Pathogenic/Likely pathogenic ★★ same condition
DMD p.Glu2854Thr Uncertain significance ★★ same condition
DMD c.832-18_832-17delinsGA Benign/Likely benign ★★ same condition
DMD c.10224-6_10249delinsACT Likely pathogenic ★ same condition
DMD c.2278_2292+101delinsTGATAAA 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-ser2464ile (accessed [today's date]).

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