Is HTT c.52CAG[?_25] pathogenic?

HTT c.52CAG[?25] is classified Benign in HTT (ClinVar, No assertion criteria, 1 submitter; last evaluated 2010-04-22). Associated with Huntington disease.

What condition is associated with HTT c.52CAG[?_25]?

HTT c.52CAG[?_25] is associated with Huntington disease (ClinVar).

How is Huntington disease inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

HTT c.52CAG[?_25]

VCV21303

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Huntington disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type.
Region caveats
Repeat context	tandem	(CAG)n simple repeat · ambiguous alignment · confidence, not pathogenicity

Variant & gene context

Gene: HTT
Coding: c.52CAG[?_25]
MANE Select: NM_001388492 · reported on NM_002111
Type: Microsatellite
Location: chr4:3074877 (GRCh38)
Structure: AlphaFold pLDDT 85.38 · 30 PDB

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

Disease context

Huntington disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Huntington disease (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood, Elderly
Prevalence: 1-9 / 100 000 (Greece)

Similar variants

HTT c.52CAG[55_59] Likely pathogenic ★ same condition
HTT p.Gln18_Gln38dup Likely pathogenic ★ same condition
HTT p.Gln36_Gln38dup Conflicting classifications of pathogenicity ★ same condition
HTT p.Gln38_Pro39insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln Conflicting classifications of pathogenicity ★ same condition
HTT p.Asp920Asn Uncertain significance ★★ same condition
HTT p.Gly2084Arg Uncertain significance ★★ same condition
HTT p.Gly2968Asp Uncertain significance ★★ same condition
HTT p.Pro703Leu Uncertain significance ★★ ⚠ 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/htt-c-52cag-25 (accessed [today's date]).

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