AR p.Ser117fs
c.349del · VCV3776628
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 1 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.2 | GERP -1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AR
- Protein
- p.Ser117fs
- Coding
- c.349del
- MANE Select
- NM_000044
- Type
- Deletion
- Location
- chrX:67545494 (GRCh38)
- Structure
- AlphaFold pLDDT 58.85 · 95 PDB
- Residue 117
- the 'interaction with znf318' region; the 'modulating' region; the 'disordered' region
Similar variants
- AR p.Asp768fs Pathogenic ★★ same type
- AR p.Pro487fs Pathogenic ★★ same type
- AR p.Pro534_Tyr535insTer Pathogenic/Likely pathogenic ★★ same type
- AR c.2317_2318+2del Pathogenic ★ same type
- AR p.Ala217fs Likely pathogenic ★ same type
- AR p.Ala52fs Pathogenic ★ same type
- AR p.Ala680_Val685del Pathogenic ★ same type
- AR p.Arg40fs Likely pathogenic ★ same type
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-ser117fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown