Is DMD p.Asn2912Asp (c.8734A>G) pathogenic?

DMD p.Asn2912Asp (c.8734A>G) is classified Benign/Likely benign in DMD (ClinVar, Multiple submitters, 21 submitters; last evaluated 2026-03-27). AlphaMissense: likely benign (0.109); Common (popmax 7.1%, afr) — too common for a highly-penetrant pathogenic allele; Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Asn2912Asp (c.8734A>G)?

DMD p.Asn2912Asp (c.8734A>G) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

What do computational predictors say about DMD p.Asn2912Asp (c.8734A>G)?

AlphaMissense predicts likely benign (score 0.109) — an in-silico prediction, not a clinical call.

DMD p.Asn2912Asp

Q: How common is DMD p.Asn2912Asp (c.8734A>G) in the general population?

DMD p.Asn2912Asp (c.8734A>G) is common (popmax 7.1%, afr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.8734A>G · rs1800278 · VCV11268

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 21 submitters

AlphaMissense

likely benign

0.109 · ACMG-weighted

gnomAD v4.1

Common

common (popmax 7.1%, afr) — too common for a highly-penetrant pathogenic allele

Missense predictors

0/2 damaging

AlphaMissense, REVEL

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.109	likely benign
REVEL	0.062	moderately benign-leaning
⇒ AlphaMissense and REVEL both call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.8	GERP 0.48, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	14.92	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 7.1% African / African-American · 4,047/57,003 alleles

Filtering AF 6.92% ClinGen BA1/BS1 input FAF95, joint · FAF99 6.84%

Overall 1.47% 17,829/1,209,467 alleles · common

Ancestry group	Frequency	1 in
African / African-Americangrpmax	7.1%	14
East Asian	4.23%	24
Admixed American	2.28%	44
Finnishnot grpmax-eligible	1.81%	55
Ashkenazi Jewishnot grpmax-eligible	1.78%	56
Remaining individualsnot grpmax-eligible	1.77%	56
Middle Eastern	1.22%	82
South Asian	1.16%	86
European (non-Finnish)	0.952%	105

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.Asn2912Asp
Coding: c.8734A>G
MANE Select: NM_004006
dbSNP: rs1800278
Type: single nucleotide variant
Location: chrX:31478309 (GRCh38)
Residue 2912: a UniProt-annotated variant site (in)

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.Asn2912= Likely benign ★ same residue
DMD p.Asn2912Ser Likely benign ★ 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

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-asn2912asp (accessed [today's date]).

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