AR c.1885+8A>G
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
Kennedy disease
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +8 | near-intronic (+8 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 2.1 | GERP -2, phastCons 0.88 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
| Overall | ||
| CADD | 3.343 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- AR
- Coding
- c.1885+8A>G
- MANE Select
- NM_024417 · reported on NM_000044
- dbSNP
- rs2147498012
- Type
- single nucleotide variant
- Location
- chrX:67686134 (GRCh38)
- Structure
- AlphaFold pLDDT 91.66
Disease context
Kennedy disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: androgen insensitivity syndrome
For Kennedy disease (Orphanet):
- Inheritance
- X-linked recessive
- Onset
- Adult
- Prevalence
- <1 / 1 000 000 (Italy)
Similar variants
- AR c.1768+2T>C Pathogenic/Likely pathogenic ★★ same condition
- AR c.1769-11T>A Pathogenic ★★ same condition
- AR c.2450-6C>G Pathogenic ★★ same condition
- AR p.Ala588Pro Pathogenic/Likely pathogenic ★★ same condition
- AR p.Ala597Thr Pathogenic ★★ same condition
- AR p.Ala688Val Pathogenic/Likely pathogenic ★★ same condition
- AR p.Ala766Thr Pathogenic ★★ same condition
- AR p.Ala871Val 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-c-1885-plus-8a-g (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown