Is AR p.Val717del (c.2148_2150del) pathogenic?

AR p.Val717del (c.21482150del) is classified Uncertain significance in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2025-01-22). Associated with Kennedy disease.

What condition is associated with AR p.Val717del (c.2148_2150del)?

AR p.Val717del (c.2148_2150del) is associated with Kennedy disease, androgen insensitivity syndrome (ClinVar).

How is Kennedy disease inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

AR p.Val717del

c.2148_2150del · VCV3755782

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Kennedy disease

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.5	GERP -3.7

Variant & gene context

Gene: AR
Protein: p.Val717del
Coding: c.2148_2150del
MANE Select: NM_000044
Type: Deletion
Location: chrX:67711662 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 717: the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; an α-helix; the 'interaction with lpxn' region

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

Disease context

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

Also linked: androgen insensitivity syndrome

For Kennedy disease (Orphanet):

Inheritance: X-linked recessive
Onset: Adult
Prevalence: <1 / 1 000 000 (Italy)

Similar variants

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
AR p.Asp156fs Pathogenic ★ same condition
AR p.Asp496fs 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-val717del (accessed [today's date]).

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