Is F8 p.Ser806fs (c.2413_2414dup) pathogenic?

F8 p.Ser806fs (c.24132414dup) is classified Pathogenic in F8 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-02-02). Associated with hemophilia A.

What condition is associated with F8 p.Ser806fs (c.2413_2414dup)?

F8 p.Ser806fs (c.2413_2414dup) is associated with hemophilia A (ClinVar).

How is Hemophilia A inherited?

Typically X-linked recessive (Orphanet). A genetic counselor can assess individual risk for a family.

F8 p.Ser806fs

c.2413_2414dup · VCV4756107

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

hemophilia A

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 0.99	GERP -0.21, phastCons 0.91

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: F8
Protein: p.Ser806fs
Coding: c.2413_2414dup
MANE Select: NM_000132
Type: Microsatellite
Location: chrX:154931375 (GRCh38)
Structure: AlphaFold pLDDT 61.20 · 29 PDB
Residue 806: the 'b' region

Full F8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hemophilia A — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Hemophilia A (Orphanet):

Inheritance: X-linked recessive
Onset: Childhood, Infancy, Neonatal
Prevalence: 1-9 / 100 000 (Worldwide)

Similar variants

F8 p.Thr252fs Pathogenic ★★ same condition
F8 p.His2156fs Pathogenic ★ same condition
F8 p.Leu69fs Pathogenic ★ same condition
F8 p.Lys1443fs Pathogenic ★ same condition
F8 p.Tyr1834fs Pathogenic ★ same condition
F8 p.Tyr65fs Likely pathogenic ★ same condition
F8 p.Phe672del Uncertain significance ★ same condition
F8 p.Phe2294fs 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-ser806fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown