Is DMD p.Arg2155Trp (c.6463C>T) pathogenic?

DMD p.Arg2155Trp (c.6463C>T) is classified Benign/Likely benign in DMD (ClinVar, Multiple submitters, 19 submitters; last evaluated 2026-02-04). AlphaMissense: likely benign (0.1896); Low-frequency (popmax 4.4%, nfe); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Arg2155Trp (c.6463C>T)?

DMD p.Arg2155Trp (c.6463C>T) is associated with Cardiovascular phenotype, cardiomyopathy, Becker muscular dystrophy (ClinVar).

How common is DMD p.Arg2155Trp (c.6463C>T) in the general population?

DMD p.Arg2155Trp (c.6463C>T) is low-frequency (popmax 4.4%, nfe) (gnomAD).

What do computational predictors say about DMD p.Arg2155Trp (c.6463C>T)?

AlphaMissense predicts likely benign (score 0.1896) — an in-silico prediction, not a clinical call.

DMD p.Arg2155Trp

c.6463C>T · rs1800273 · VCV94741

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 19 submitters

AlphaMissense

likely benign

0.1896 · ACMG-weighted

gnomAD v4.1

Rare

low-frequency (popmax 4.4%, nfe)

Missense predictors

0/2 damaging

AlphaMissense, REVEL

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.1896	likely benign
REVEL	0.161	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 3.8	GERP -0.2, phastCons 1
Regional constraint	o/e 1.36	unconstrained · MANE · 1,863 kb · p 2.4e-62 · regional, not allelic
Overall
CADD	23.1	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 4.4% European (non-Finnish) · 39,308/894,239 alleles

Filtering AF 4.36% ClinGen BA1/BS1 input FAF95, joint · FAF99 4.34%

Overall 3.67% 44,374/1,208,510 alleles · low-frequency

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	4.4%	23
Remaining individualsnot grpmax-eligible	3.28%	30
Finnishnot grpmax-eligible	3.18%	31
Admixed American	2.19%	46
Ashkenazi Jewishnot grpmax-eligible	1.82%	55
Amishnot grpmax-eligible	1.17%	85
Middle Eastern	0.851%	117
South Asian	0.525%	191
African / African-American	0.497%	201
East Asian	0.0119%	8,425

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.Arg2155Trp
Coding: c.6463C>T
MANE Select: NM_004006
dbSNP: rs1800273
Type: single nucleotide variant
Location: chrX:31968490 (GRCh38)
Residue 2155: 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.Arg2155Gln 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-arg2155trp (accessed [today's date]).

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