F5 p.Asp2175fs
c.6523del · VCV4691148
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
congenital factor V deficiency
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 within the last 50 nt of the penultimate exon (24 of 25, 5 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.9 | GERP 0.47, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- F5
- Protein
- p.Asp2175fs
- Coding
- c.6523del
- MANE Select
- NM_000130
- Type
- Deletion
- Location
- chr1:169515449 (GRCh38)
- Gene constraint
- LOEUF 0.704 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 62.57 · 23 PDB
- Residue 2175
- a disulfide bond; an α-helix; the f5/8 type c 2 domain
Disease context
congenital factor V deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Congenital factor V deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- All ages
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- F5 c.4962_4971+3del Likely pathogenic ★★ same condition
- F5 p.Ile847fs Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Leu1267fs Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Leu1818fs Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Lys674fs Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Ser955fs Pathogenic/Likely pathogenic ★★ same condition
- F5 p.Thr397_Tyr399del Uncertain significance ★★ same condition
- F5 c.251-6del Benign/Likely benign ★★ 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/f5-p-asp2175fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown