AR p.Phe879fs
c.2637del · VCV3756074
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
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 | escapes | premature termination codon in the last exon (8 of 8) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.5 | GERP 0.92, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AR
- Protein
- p.Phe879fs
- Coding
- c.2637del
- MANE Select
- NM_000044
- Type
- Deletion
- Location
- chrX:67723712 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 879
- the nr lbd domain; the 'interaction with ccar1' region; the 'interaction with kat7' region; an α-helix; the 'interaction with lpxn' region
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 p.Phe879Ser Likely pathogenic 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
- AR p.Asp156fs 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-phe879fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown