Is DMD p.Asp451Tyr (c.1351G>T) pathogenic?

DMD p.Asp451Tyr (c.1351G>T) is classified Pathogenic/Likely pathogenic in DMD (ClinVar, Multiple submitters, 3 submitters; last evaluated 2024-09-01). AlphaMissense: likely benign (0.1503); Absent from gnomAD v4.1; Associated with Becker muscular dystrophy.

What condition is associated with DMD p.Asp451Tyr (c.1351G>T)?

DMD p.Asp451Tyr (c.1351G>T) is associated with Becker muscular dystrophy, Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Asp451Tyr (c.1351G>T) in the general population?

DMD p.Asp451Tyr (c.1351G>T) is absent from gnomAD v4.1 (gnomAD).

How is Becker muscular dystrophy inherited?

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

What do computational predictors say about DMD p.Asp451Tyr (c.1351G>T)?

AlphaMissense predicts likely benign (score 0.1503) — an in-silico prediction, not a clinical call.

DMD p.Asp451Tyr

c.1351G>T · rs1602169535 · VCV642449

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

AlphaMissense

likely benign

0.1503 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,206,817)

Conditions

Becker muscular dystrophy

Computational evidence

Protein change
AlphaMissense	0.1503	likely benign ⚠ discordant with ClinVar
REVEL	0.302	indeterminate
Splicing
SpliceAI	Δ0.87	acceptor gain, 9 bp away · raw score · deltas
Pangolin	Δ0.77	gain · loss 0.70 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 4.9	GERP 1.5, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	34.0	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

No allele count reported in gnomAD v4.1 (AN 1,206,817). 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.Asp451Tyr
Coding: c.1351G>T
MANE Select: NM_004006
dbSNP: rs1602169535
Type: single nucleotide variant
Location: chrX:32614434 (GRCh38)
Residue 451: an α-helix

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: 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 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
DMD c.10554-2A>G Pathogenic/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-asp451tyr (accessed [today's date]).

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