Is F8 p.Ser836fs (c.2506dup) pathogenic?

F8 p.Ser836fs (c.2506dup) is classified Pathogenic in F8 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-02-02). No gnomAD frequency available for this variant; Associated with hemophilia A.

What condition is associated with F8 p.Ser836fs (c.2506dup)?

F8 p.Ser836fs (c.2506dup) is associated with hemophilia A (ClinVar).

How common is F8 p.Ser836fs (c.2506dup) in the general population?

F8 p.Ser836fs (c.2506dup) 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.Ser836fs

c.2506dup · rs2124053251 · VCV1330905

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 14 of 26
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.4	GERP 1.3, 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.Ser836fs
Coding: c.2506dup
MANE Select: NM_000132
dbSNP: rs2124053251
Type: Duplication
Location: chrX:154931283 (GRCh38)
Structure: AlphaFold pLDDT 61.20 · 29 PDB
Residue 836: 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.Asn982fs Pathogenic ★★ same condition
F8 p.Glu1101fs Pathogenic ★★ same condition
F8 p.Leu2320fs Pathogenic/Likely pathogenic ★★ same condition
F8 p.Thr1609fs Pathogenic ★★ same condition
F8 p.Ala1819fs Likely pathogenic ★ same condition
F8 p.Arg1567fs Likely pathogenic ★ same condition
F8 p.Leu2181fs Pathogenic ★ same condition
F8 p.Phe218fs 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-ser836fs (accessed [today's date]).

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