AR p.Cys577fs
c.1730del · VCV4538407
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
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 2 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AR
- Protein
- p.Cys577fs
- Coding
- c.1730del
- MANE Select
- NM_000044
- Type
- Deletion
- Location
- chrX:67643369 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 577
- the 'interaction with hipk3' region; a DNA-binding region; the 'interaction with znf318' region; a UniProt-annotated variant site (in ais); the 'interaction with lpxn' region
Similar variants
- AR p.Cys577Arg Pathogenic/Likely pathogenic ★★ same residue
- AR p.Cys577= Likely benign ★ 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.Asn757fs Pathogenic ★ same condition
- AR p.Asn834_Tyr835insTer 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-cys577fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown