Is CFB p.Glu243del (c.728_730del) pathogenic?

CFB p.Glu243del (c.728730del) is classified Uncertain significance in CFB (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-24). Absent from gnomAD.

How common is CFB p.Glu243del (c.728_730del) in the general population?

CFB p.Glu243del (c.728_730del) is absent from gnomAD (gnomAD).

CFB p.Glu243del

c.728_730del · rs2151783116 · VCV1373749

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 1.9, phastCons 1

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: CFB
Protein: p.Glu243del
Coding: c.728_730del
MANE Select: NM_001710
dbSNP: rs2151783116
Type: Deletion
Location: chr6:31947809 (GRCh38)
Gene constraint: LOEUF 0.719 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.54 · 28 PDB

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

Similar variants

CFB p.Glu243_Gly244delinsGlyVal Uncertain significance ★ same residue
CFB p.Glu243Gly Uncertain significance ★ ⚠ same residue
CFB p.Glu243Val Uncertain significance ★ ⚠ same residue
CFB p.Ile297fs Likely pathogenic ★ same type
CFB c.1409-10_1409-8del Uncertain significance ★ same type
CFB c.2139+13_2139+18del Uncertain significance ★ same type
CFB p.Asn460fs Uncertain significance ★ same type
CFB p.Asp723fs 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/cfb-p-glu243del (accessed [today's date]).

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