Is DDX41 p.Asp14fs (c.40_50del) pathogenic?

DDX41 p.Asp14fs (c.4050del) is classified Likely pathogenic in DDX41 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-06-24). Associated with Inborn genetic diseases.

What condition is associated with DDX41 p.Asp14fs (c.40_50del)?

DDX41 p.Asp14fs (c.40_50del) is associated with Inborn genetic diseases (ClinVar).

DDX41 p.Asp14fs

c.40_50del · VCV4238722

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Inborn genetic diseases

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 2 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.17	GERP -1, phastCons 0.37

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

Variant & gene context

Gene: DDX41
Protein: p.Asp14fs
Coding: c.40_50del
MANE Select: NM_016222
Type: Deletion
Location: chr5:177516813 (GRCh38)
Gene constraint: LOEUF 0.768 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 78.38 · 5 PDB
Residue 14: the 'disordered' region

Full DDX41 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DDX41 p.Asp14= Likely benign ★ same residue
DDX41 p.Glu268fs Pathogenic/Likely pathogenic ★★ same condition
DDX41 p.Gly465fs Pathogenic ★★ same condition
DDX41 p.Ile209fs Pathogenic ★★ same condition
DDX41 p.Phe385fs Pathogenic ★★ same condition
DDX41 p.Pro499fs Pathogenic/Likely pathogenic ★★ same condition
DDX41 p.Thr144fs Pathogenic ★★ same condition
DDX41 c.27+4_27+5del Uncertain significance ★★ 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/ddx41-p-asp14fs (accessed [today's date]).

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