Is AR p.Arg832Ter (c.2494C>T) pathogenic?

AR p.Arg832Ter (c.2494C>T) is classified Pathogenic in AR (ClinVar, Multiple submitters, 3 submitters; last evaluated 2025-10-10). Absent from gnomAD v4.1; Associated with androgen insensitivity syndrome.

What condition is associated with AR p.Arg832Ter (c.2494C>T)?

AR p.Arg832Ter (c.2494C>T) is associated with androgen insensitivity syndrome, Kennedy disease (ClinVar).

How common is AR p.Arg832Ter (c.2494C>T) in the general population?

AR p.Arg832Ter (c.2494C>T) is absent from gnomAD v4.1 (gnomAD).

AR p.Arg832Ter

c.2494C>T · rs2147537840 · VCV1342730

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

androgen insensitivity syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 7 of 8
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Pangolin	Δ0.32	loss · gain 0.00 · not in the SpliceAI release · independent
Constraint at this position
Conservation	phyloP 5.8	GERP 0.92, phastCons 1
Overall
CADD	36.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: AR
Protein: p.Arg832Ter
Coding: c.2494C>T
MANE Select: NM_000044
dbSNP: rs2147537840
Type: single nucleotide variant
Location: chrX:67722871 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 832: the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; a UniProt-annotated variant site (in ais); a UniProt-annotated variant site (in ais; loss of androgen binding); an α-helix; the 'interaction with lpxn' 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

Also linked: Kennedy disease

Similar variants

AR p.Arg832Gln Pathogenic ★★ same residue
AR p.Arg832Gly Pathogenic ★ same residue
AR c.1768+2T>C Pathogenic/Likely pathogenic ★★ same condition
AR c.1769-11T>A Pathogenic ★★ same condition
AR c.2450-6C>G Pathogenic ★★ same condition
AR p.Ala588Pro Pathogenic/Likely pathogenic ★★ same condition
AR p.Ala597Thr Pathogenic ★★ same condition
AR p.Ala688Val Pathogenic/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/ar-p-arg832ter (accessed [today's date]).

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