Is AR p.Asp266fs (c.796dup) pathogenic?

AR p.Asp266fs (c.796dup) is classified Pathogenic in AR (ClinVar, No assertion criteria, 1 submitter; last evaluated 2003-05-01). Very rare (popmax 0.00173%, afr); Associated with androgen insensitivity syndrome.

What condition is associated with AR p.Asp266fs (c.796dup)?

AR p.Asp266fs (c.796dup) is associated with androgen insensitivity syndrome (ClinVar).

How common is AR p.Asp266fs (c.796dup) in the general population?

AR p.Asp266fs (c.796dup) is very rare (popmax 0.00173%, afr) (gnomAD).

AR p.Asp266fs

c.796dup · rs1555969694 · VCV492779

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00173%, afr)

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 2.2	GERP 0.38, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00173% African / African-American · 1/57,918 alleles

Overall 0.000182% 2/1,098,181 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00173%	57,918
European (non-Finnish)	0.000112%	895,536

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: AR
Protein: p.Asp266fs
Coding: c.796dup
MANE Select: NM_000044
dbSNP: rs1555969694
Type: Duplication
Location: chrX:67545936 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 266: the 'interaction with znf318' region; the 'modulating' 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.Gln803fs Pathogenic ★★ same condition
AR c.2449+1_2449+3dup Likely pathogenic ★ same condition
AR p.Ala401fs Likely pathogenic ★ same condition
AR p.Ala722fs Pathogenic ★ same condition
AR p.Arg539fs Pathogenic ★ same condition
AR p.Asp183fs Pathogenic ★ same condition
AR p.Gly337fs Pathogenic ★ same condition
AR p.Gly448fs 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-asp266fs (accessed [today's date]).

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