Is AR p.Ser208fs (c.622dup) pathogenic?

AR p.Ser208fs (c.622dup) is classified Likely pathogenic in AR (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-30). Associated with AR-related disorders.

What condition is associated with AR p.Ser208fs (c.622dup)?

AR p.Ser208fs (c.622dup) is associated with AR-related disorders (ClinVar).

AR p.Ser208fs

c.622dup · VCV4951189

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

AR-related disorders

Computational evidence

Protein change
Missense predictors do not apply to this variant type.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 1 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Region caveats
Repeat context	tandem	(CAG)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.Ser208fs
Coding: c.622dup
MANE Select: NM_000044
Type: Duplication
Location: chrX:67545767 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 208: 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

AR-related disorders

Similar variants

AR p.Gly250fs Likely pathogenic ★ same condition
AR c.1616+1_1616+2dup Likely pathogenic same condition
AR p.Gln88fs Pathogenic same condition
AR p.Phe892_Pro893insPhe Likely pathogenic same condition
AR p.Ala597Thr Pathogenic ★★ same condition
AR p.Arg511Ter Pathogenic ★★ same condition
AR p.Arg608Gln Pathogenic/Likely pathogenic ★★ same condition
AR p.Arg753Gln 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-ser208fs (accessed [today's date]).

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