Is DMD p.Asn2576= (c.7728T>C) pathogenic?

DMD p.Asn2576= (c.7728T>C) is classified Benign in DMD (ClinVar, Multiple submitters, 17 submitters; last evaluated 2026-02-04). Common (popmax 39.5%, eas) — too common for a highly-penetrant pathogenic allele; Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Asn2576= (c.7728T>C)?

DMD p.Asn2576= (c.7728T>C) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

DMD p.Asn2576=

Q: How common is DMD p.Asn2576= (c.7728T>C) in the general population?

DMD p.Asn2576= (c.7728T>C) is common (popmax 39.5%, eas) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.7728T>C · rs1801188 · VCV94776

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 17 submitters

gnomAD v4.1

Common

common (popmax 39.5%, eas) — too common for a highly-penetrant pathogenic allele

Conditions

Cardiovascular phenotype

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 1.6	GERP 0.5, phastCons 1
Overall
CADD	7.023	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 39.5% East Asian · 13,291/33,668 alleles

Filtering AF 38.9% ClinGen BA1/BS1 input FAF95, joint · FAF99 38.7%

Overall 19.6% 236,867/1,209,378 alleles · common

Ancestry group	Frequency	1 in
East Asiangrpmax	39.5%	3
European (non-Finnish)	20.7%	5
Middle Eastern	20.3%	5
Remaining individualsnot grpmax-eligible	20%	5
Ashkenazi Jewishnot grpmax-eligible	17.9%	6
South Asian	14.3%	7
Finnishnot grpmax-eligible	12.9%	8
Amishnot grpmax-eligible	11.5%	9
Admixed American	10.2%	10
African / African-American	9.5%	11

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.Asn2576=
Coding: c.7728T>C
MANE Select: NM_004006
dbSNP: rs1801188
Type: single nucleotide variant
Location: chrX:31679519 (GRCh38)

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: cardiomyopathy Becker muscular dystrophy dilated cardiomyopathy 3B Duchenne muscular dystrophy

Similar variants

DMD p.Asn2576Asp Uncertain significance ⚠ 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-asn2576 (accessed [today's date]).

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