Is AR p.Gln58fs (c.172del) pathogenic?

AR p.Gln58fs (c.172del) is classified Pathogenic in AR (ClinVar, No assertion criteria, 1 submitter; last evaluated 2024-11-20). Associated with androgen insensitivity syndrome.

What condition is associated with AR p.Gln58fs (c.172del)?

AR p.Gln58fs (c.172del) is associated with androgen insensitivity syndrome (ClinVar).

AR p.Gln58fs

c.172del · VCV4876791

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

androgen insensitivity syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 1 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.75	GERP -0.037, phastCons 0.043
Region caveats
Repeat context	tandem	(GCA)n simple repeat · ambiguous alignment · confidence, not pathogenicity

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: AR
Protein: p.Gln58fs
Coding: c.172del
MANE Select: NM_000044
Type: Deletion
Location: chrX:67545318 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 58: the 'interaction with znf318' region; the 'modulating' region; the 'disordered' region

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

Disease context

androgen insensitivity syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AR p.Gln58_Gln59delinsLeu Uncertain significance ★ same residue
AR p.Gln58Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
AR p.Asp768fs Pathogenic ★★ same condition
AR p.Pro487fs Pathogenic ★★ same condition
AR p.Pro534_Tyr535insTer Pathogenic/Likely pathogenic ★★ same condition
AR p.Ala52fs Pathogenic ★ same condition
AR p.Asn757fs Pathogenic ★ same condition
AR p.Asn834_Tyr835insTer 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/ar-p-gln58fs (accessed [today's date]).

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