Is DMD p.Gln2172= (c.6516A>G) pathogenic?

DMD p.Gln2172= (c.6516A>G) is classified Likely benign in DMD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-09-15). Very rare (popmax 0.00175%, afr); Associated with Cardiovascular phenotype.

What condition is associated with DMD p.Gln2172= (c.6516A>G)?

DMD p.Gln2172= (c.6516A>G) is associated with Cardiovascular phenotype, Duchenne muscular dystrophy (ClinVar).

How common is DMD p.Gln2172= (c.6516A>G) in the general population?

DMD p.Gln2172= (c.6516A>G) is very rare (popmax 0.00175%, afr) (gnomAD).

DMD p.Gln2172=

c.6516A>G · rs1285172878 · VCV1546516

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00175%, afr)

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 -0.33	GERP -2.2, phastCons 0.095
Overall
CADD	2.128	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00175% African / African-American · 1/57,147 alleles

Filtering AF 0.000105% ClinGen BA1/BS1 input FAF95, joint · FAF99 7.1e-05%

Overall 0.000413% 5/1,209,264 alleles · very rare exomes 4/1,097,305 · genomes 1/111,959 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00175%	57,147
European (non-Finnish)	0.000447%	223,662

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.Gln2172=
Coding: c.6516A>G
MANE Select: NM_004006
dbSNP: rs1285172878
Type: single nucleotide variant
Location: chrX:31968437 (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: Duchenne muscular dystrophy

Similar variants

DMD p.Gln2172Arg Uncertain significance ★ ⚠ same residue
DMD p.Gln2172Leu Uncertain significance ★ ⚠ same residue
DMD p.Gln2172Ter Pathogenic ★ 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

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-gln2172 (accessed [today's date]).

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