Is F9 p.Asp93fs (c.276del) pathogenic?

F9 p.Asp93fs (c.276del) is classified Pathogenic in F9 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-02-01). Absent from gnomAD; Associated with Abnormality of coagulation.

What condition is associated with F9 p.Asp93fs (c.276del)?

F9 p.Asp93fs (c.276del) is associated with Abnormality of coagulation (ClinVar).

How common is F9 p.Asp93fs (c.276del) in the general population?

F9 p.Asp93fs (c.276del) is absent from gnomAD (gnomAD).

F9 p.Asp93fs

c.276del · rs1603264300 · VCV627047

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

Abnormality of coagulation

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 3 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.7	GERP 3.2, 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: F9
Protein: p.Asp93fs
Coding: c.276del
MANE Select: NM_000133
dbSNP: rs1603264300
Type: Deletion
Location: chrX:139537384 (GRCh38)
Structure: AlphaFold pLDDT 80.45 · 57 PDB
Residue 93: a UniProt-annotated variant site (in hemb; moderate; alabama); a binding site; the egf-like 1; calcium-binding domain

Full F9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Abnormality of coagulation — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

F9 p.Asp93Asn Pathogenic ★★★ same residue
F9 p.Asp93Gly Likely pathogenic ★ same residue
F9 p.Lys247Thr Uncertain significance ★ ⚠ same condition
F9 p.Trp356Leu Conflicting classifications of pathogenicity ★ ⚠ same condition
F9 p.Pro324fs Pathogenic ★★★ same type
F9 c.838+1_838+16del Pathogenic/Likely pathogenic ★★ same type
F9 p.Ser182fs Pathogenic ★★ same type
F9 c.392-7_392-4del Uncertain significance ★★ same type

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/f9-p-asp93fs (accessed [today's date]).

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