Is DMD p.Phe2838= (c.8514T>C) pathogenic?

DMD p.Phe2838= (c.8514T>C) is classified Likely benign in DMD (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-19). Very rare (popmax 0.00217%, amr); Associated with Duchenne muscular dystrophy.

What condition is associated with DMD p.Phe2838= (c.8514T>C)?

DMD p.Phe2838= (c.8514T>C) is associated with Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Phe2838= (c.8514T>C) in the general population?

DMD p.Phe2838= (c.8514T>C) is very rare (popmax 0.00217%, amr) (gnomAD).

How is Duchenne muscular dystrophy inherited?

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

DMD p.Phe2838=

c.8514T>C · rs1438909747 · VCV1664046

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00217%, amr)

Conditions

Duchenne muscular dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.334	indeterminate
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.15	GERP -2.2, phastCons 0.003
Overall
CADD	3.915	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00217% Admixed American · 1/46,091 alleles

Overall 0.000165% 2/1,212,265 alleles · very rare exomes 2/1,098,198 · genomes 0/114,067 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	0.00217%	46,091
European (non-Finnish)	0.000112%	895,648

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.Phe2838=
Coding: c.8514T>C
MANE Select: NM_004006
dbSNP: rs1438909747
Type: single nucleotide variant
Location: chrX:31496821 (GRCh38)

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

Disease context

Duchenne muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Duchenne muscular dystrophy (Orphanet):

Inheritance: X-linked recessive
Onset: Childhood
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

DMD p.Phe2838Cys Uncertain significance ★ ⚠ same residue
DMD p.Phe2838Ser 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

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-phe2838 (accessed [today's date]).

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