Is CEBPA p.Ser85fs (c.253dup) pathogenic?

CEBPA p.Ser85fs (c.253dup) is classified Pathogenic in CEBPA (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-12). Associated with acute myeloid leukemia.

What condition is associated with CEBPA p.Ser85fs (c.253dup)?

CEBPA p.Ser85fs (c.253dup) is associated with acute myeloid leukemia (ClinVar).

CEBPA p.Ser85fs

c.253dup · VCV4729019

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

acute myeloid leukemia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (1 of 1) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.1	GERP 0.25, phastCons 1

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

Variant & gene context

Gene: CEBPA
Protein: p.Ser85fs
Coding: c.253dup
MANE Select: NM_004364
Type: Duplication
Location: chr19:33302161 (GRCh38)
Gene constraint: LOEUF 1.372 · pLI 0.26 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 63.67 · 2 PDB

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

Disease context

acute myeloid leukemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CEBPA p.Ser85Arg Uncertain significance ★ ⚠ same residue
CEBPA p.Ala240_Leu241dup Uncertain significance ★★ same condition
CEBPA p.Gly104_Asp105dup Uncertain significance ★★ same condition
CEBPA p.Lys298fs Uncertain significance ★★ same condition
CEBPA p.Pro198_Ala199insSerHisProHisProHisProProPro Uncertain significance ★★ same condition
CEBPA p.Val119dup Uncertain significance ★★ same condition
CEBPA p.Gln41fs Pathogenic ★ same condition
CEBPA p.Leu315_Glu316insThrGlnGlnLysValLeu 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/cebpa-p-ser85fs (accessed [today's date]).

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