Genetic Information

Gene & Transcript Details

Gene
DDX41
Transcript
NM_016222.2 MANE Select
Total Exons
—
Reference Sequence
NC_000005.9
Alternative Transcripts
IDStatusDetails
NM_016222.2 Alternative 2118 nt | 22–1890
NM_016222.4 MANE Select 2099 nt | 17–1885
NM_016222.3 Alternative 2478 nt | 382–2250

Variant Details

HGVS Notation
NM_016222.2:c.521A>G
Protein Change
D174G
Location
Exon 6 (Exon 6 of )
6
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—

Clinical & Population Data

Population Frequency

gnomAD
Global Frequency
0.0 in 100,000
Extremely Rare
ACMG Criteria Applied PM2
This variant is absent or extremely rare in population databases (PM2 criteria applies).

ClinVar

Open
Classification
Unknown
0 publications
Clinical Statement

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COSMIC Somatic Evidence

Open
COSMIC ID
Recurrence
0 occurrences
PM1 Criteria
Not Applied
COSMIC Database Preview
COSMIC Preview
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Functional Impact & Domains

Functional Domain

Hotspot Status
Not a hotspot
Domain Summary
This variant is not located in a mutational hotspot or critical domain.
Related Variants in This Domain
No evidence of other pathogenic variants at this position in gene DDX41.

Functional Studies & Therapeutic Relevance

Functional Summary

Error in OpenAI Consolidation. OncoKB: DDX41D174GDDX41D174GSomaticNCBI Gene:51428|Show additional gene information Variant OverviewDDX41, an RNA helicase involved in innate immunity, is recurrently altered by mutation in hematopoietic malignancies.The DDX41 D174G mutation has not specifically been reviewed by the OncoKB team, and therefore its biological significance is unknown. JAX-CKB: No results found

Database Previews
OncoKB
OncoKB Preview
JAX-CKB
JAX-CKB Preview

Click on previews to view full database entries. External databases may require institutional access.

Computational Analysis

Pathogenicity Predictions

SpliceAI
Predictor Consensus
Mixed/VUS
PP3 Applied
No
REVEL Score
0.0
Threshold: ≥0.75 = PP3 applied

SpliceAI Scores

Window: ±500bp
Effect Type Score Position
- Acceptor Loss (AL) 0.0 48 bp
- Donor Loss (DL) 0.14 -2 bp
+ Acceptor Gain (AG) 0.0 117 bp
+ Donor Gain (DG) 0.0 -53 bp
High impact (≥0.5) Medium impact (0.2-0.49) Low impact (<0.2)

VCEP Guidelines

Applied ACMG/AMP Criteria (VCEP Specific)

Filter Criteria:
PM2

PM2 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)

BP4

BP4 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)