F9 p.Asn166fs
c.497del · VCV3345076
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
F9-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 8 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP 2.2, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- F9
- Protein
- p.Asn166fs
- Coding
- c.497del
- MANE Select
- NM_000133
- Type
- Deletion
- Location
- chrX:139548465 (GRCh38)
- Structure
- AlphaFold pLDDT 80.45 · 57 PDB
- Residue 166
- a β-strand; the egf-like 2 domain; a disulfide bond
Disease context
F9-related disorder
Similar variants
- F9 p.Lys126fs Likely pathogenic ★ same condition
- F9 p.Asn166Tyr Pathogenic ⚠ same residue
- F9 p.Arg226Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- F9 p.Arg379Gln Pathogenic ★★ ⚠ same condition
- F9 p.Arg384Ter Pathogenic ★★ same condition
- F9 p.Arg43Leu Pathogenic ★★ ⚠ same condition
- F9 p.Cys28Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
- F9 p.Gln241Arg 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/f9-p-asn166fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown