Is DMD p.Asp1908= (c.5724T>C) pathogenic?

DMD p.Asp1908= (c.5724T>C) is classified Benign/Likely benign in DMD (ClinVar, Multiple submitters, 16 submitters; last evaluated 2026-02-03). Common (popmax 5.06%, afr) — too common for a highly-penetrant pathogenic allele; Associated with Becker muscular dystrophy.

What condition is associated with DMD p.Asp1908= (c.5724T>C)?

DMD p.Asp1908= (c.5724T>C) is associated with Becker muscular dystrophy, cardiomyopathy, dilated cardiomyopathy 3B (ClinVar).

How is Becker muscular dystrophy inherited?

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

DMD p.Asp1908=

Q: How common is DMD p.Asp1908= (c.5724T>C) in the general population?

DMD p.Asp1908= (c.5724T>C) is common (popmax 5.06%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.5724T>C · rs143159113 · VCV94679

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 16 submitters

gnomAD v4.1

Common

common (popmax 5.06%, afr) — too common for a highly-penetrant pathogenic allele

Conditions

Becker muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 9.3	GERP 2.9, phastCons 1
Overall
CADD	7.888	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 5.06% African / African-American · 2,888/57,037 alleles

Filtering AF 4.91% ClinGen BA1/BS1 input FAF95, joint · FAF99 4.85%

Overall 0.288% 3,482/1,208,713 alleles · common exomes 1,787/1,097,442 · genomes 1,695/111,271 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	5.06%	20
Admixed American	0.57%	175
Remaining individualsnot grpmax-eligible	0.448%	223
Middle Eastern	0.299%	334
Ashkenazi Jewishnot grpmax-eligible	0.15%	667
South Asian	0.0194%	5,159
European (non-Finnish)	0.00715%	13,977

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.Asp1908=
Coding: c.5724T>C
MANE Select: NM_004006
dbSNP: rs143159113
Type: single nucleotide variant
Location: chrX:32343149 (GRCh38)
Residue 1908: 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: cardiomyopathy dilated cardiomyopathy 3B 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.Asp1908Val Conflicting classifications of pathogenicity ★ 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
DMD c.10223+1G>A Pathogenic ★★ same condition
DMD c.10223+1G>C Pathogenic ★★ same condition
DMD c.10224-2A>G 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-asp1908 (accessed [today's date]).

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