Is F8 p.Phe1794fs (c.5379_5381delinsGA) pathogenic?

F8 p.Phe1794fs (c.53795381delinsGA) is classified Pathogenic in F8 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-05). No gnomAD frequency available for this variant; Associated with hemophilia A.

What condition is associated with F8 p.Phe1794fs (c.5379_5381delinsGA)?

F8 p.Phe1794fs (c.5379_5381delinsGA) is associated with hemophilia A (ClinVar).

How common is F8 p.Phe1794fs (c.5379_5381delinsGA) in the general population?

F8 p.Phe1794fs (c.5379_5381delinsGA) is no gnomAD frequency available for this variant (gnomAD).

How is Hemophilia A inherited?

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

F8 p.Phe1794fs

c.5379_5381delinsGA · rs1342455699 · VCV1331090

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 16 of 26
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.6, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: F8
Protein: p.Phe1794fs
Coding: c.5379_5381delinsGA
MANE Select: NM_000132
dbSNP: rs1342455699
Type: Indel
Location: chrX:154905016 (GRCh38)
Structure: AlphaFold pLDDT 61.20 · 29 PDB
Residue 1794: the f5/8 type a 3 domain; the plastocyanin-like 5 domain; a β-strand

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.Ala420fs Pathogenic ★ same condition
F8 p.Phe1794Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
F8 c.5374-224_5453delinsT Pathogenic same condition
F8 c.6429+2T>A Pathogenic ★★★ same condition
F8 p.Ala111Thr Likely pathogenic ★★★ same condition
F8 p.Ala2220Pro Pathogenic ★★★ same condition
F8 p.Ala415Asp Likely pathogenic ★★★ same condition
F8 p.Ala415Val 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-phe1794fs (accessed [today's date]).

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