Is CFI p.Asp27fs (c.79del) pathogenic?

CFI p.Asp27fs (c.79del) is classified Pathogenic in CFI (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-31). Absent from gnomAD; Associated with atypical hemolytic-uremic syndrome with I factor anomaly.

What condition is associated with CFI p.Asp27fs (c.79del)?

CFI p.Asp27fs (c.79del) is associated with atypical hemolytic-uremic syndrome with I factor anomaly (ClinVar).

How common is CFI p.Asp27fs (c.79del) in the general population?

CFI p.Asp27fs (c.79del) is absent from gnomAD (gnomAD).

CFI p.Asp27fs

c.79del · rs2545457659 · VCV3061879

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

atypical hemolytic-uremic syndrome with I factor anomaly

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.63	GERP -0.67, phastCons 0.001

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: CFI
Protein: p.Asp27fs
Coding: c.79del
MANE Select: NM_000204
dbSNP: rs2545457659
Type: Deletion
Location: chr4:109766803 (GRCh38)
Gene constraint: LOEUF 1.076 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.50 · 2 PDB

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

Disease context

atypical hemolytic-uremic syndrome with I factor anomaly — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CFI p.Glu434fs Pathogenic/Likely pathogenic ★★ same condition
CFI p.Met138fs Pathogenic/Likely pathogenic ★★ same condition
CFI p.Asp27Ala Uncertain significance ★ ⚠ same residue
CFI p.Asp27Gly Uncertain significance ★ same residue
CFI p.Asp27= Likely benign ★ same residue
CFI c.1429+1G>C Pathogenic/Likely pathogenic ★★ same condition
CFI c.57+1G>C Likely pathogenic ★★ same condition
CFI c.905-1G>C Likely 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/cfi-p-asp27fs (accessed [today's date]).

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