F8 p.Arg1349fs
c.4045del · VCV4953771
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
F8-related disorders
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 14 of 26 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.3 | GERP -1.7 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- F8
- Protein
- p.Arg1349fs
- Coding
- c.4045del
- MANE Select
- NM_000132
- Type
- Deletion
- Location
- chrX:154929745 (GRCh38)
- Structure
- AlphaFold pLDDT 61.20 · 29 PDB
- Residue 1349
- the 'b' region
Disease context
F8-related disorders
Similar variants
- F8 c.144-14_144-10del Uncertain significance ★ same condition
- F8 p.Arg1349Gly Uncertain significance ★ ⚠ same residue
- F8 c.2113+472_2113+473del Likely benign same condition
- F8 p.Arg1708Cys Pathogenic ★★ ⚠ same condition
- F8 p.Arg1960Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- F8 p.Arg2169His Pathogenic ★★ ⚠ same condition
- F8 p.Arg2326Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- F8 p.Arg602Gly 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/f8-p-arg1349fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown