Is AR p.Ser310fs (c.928_929del) pathogenic?

AR p.Ser310fs (c.928929del) is classified Pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-04). Associated with Kennedy disease.

What condition is associated with AR p.Ser310fs (c.928_929del)?

AR p.Ser310fs (c.928_929del) 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.Ser310fs

c.928_929del · VCV3755704

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Kennedy disease

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 1.7	GERP 0.96, phastCons 0.96

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

Variant & gene context

Gene: AR
Protein: p.Ser310fs
Coding: c.928_929del
MANE Select: NM_000044
Type: Deletion
Location: chrX:67546074 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 310: the 'interaction with znf318' region; the 'modulating' 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-ser310fs (accessed [today's date]).

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