Is AR p.Arg630fs (c.1888del) pathogenic?

AR p.Arg630fs (c.1888del) is classified Pathogenic in AR (ClinVar, No assertion criteria, 1 submitter; last evaluated 2015-09-15). No gnomAD frequency available for this variant; Associated with androgen insensitivity syndrome.

What condition is associated with AR p.Arg630fs (c.1888del)?

AR p.Arg630fs (c.1888del) is associated with androgen insensitivity syndrome (ClinVar).

How common is AR p.Arg630fs (c.1888del) in the general population?

AR p.Arg630fs (c.1888del) is no gnomAD frequency available for this variant (gnomAD).

AR p.Arg630fs

c.1888del · rs1555995750 · VCV492785

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 4 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 12	GERP 1.7, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: AR
Protein: p.Arg630fs
Coding: c.1888del
MANE Select: NM_000044
dbSNP: rs1555995750
Type: Deletion
Location: chrX:67711402 (GRCh38)
Structure: AlphaFold pLDDT 58.85 · 95 PDB
Residue 630: the 'interaction with hipk3' region; a UniProt-annotated variant site (in prostate cancer); the 'interaction with ccar1' region; the 'interaction with kat7' region; a DNA-binding region; 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

Similar variants

AR p.Arg630= Likely benign ★★ same residue
AR p.Arg630Gln Uncertain significance ★ ⚠ same residue
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.Arg630Trp Likely pathogenic ★ same residue
AR p.Asn757fs 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-arg630fs (accessed [today's date]).

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