DDX41 c.298+15A>G, p.?
NM_016222.2:c.298+15A>G
Variant of Uncertain Significance (VUS)
Using classification after pre-processing (Variant of Uncertain Significance (VUS)) due to LLM failure: LLM interpretation failed: LLM response structure unexpected (missing 'text' field in 'output[1].content[0]').
ACMG/AMP Criteria Applied
PM2
BP6
Genetic Information
Gene & Transcript Details
Gene
DDX41
Transcript
NM_016222.4
MANE Select
Total Exons
17
Strand
Reverse (−)
Reference Sequence
NC_000005.9
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_016222.2 | Alternative | 17 exons | Reverse |
| NM_016222.3 | Alternative | 17 exons | Reverse |
Variant Details
HGVS Notation
NM_016222.2:c.298+15A>G
Protein Change
?
Location
Exon 3
(Exon 3 of 17)
5'Exon Structure (17 total)3'
Functional Consequence
Missense Variant
Related Variants
Variant interpretation based on transcript NM_016222.4
Genome Browser
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HGVS InputNM_016222:c.298+15A>G
Active Tracks
ConservationRefSeqClinVargnomAD
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Clinical Data
Population Frequency
Global Frequency
0.0 in 100,000
Extremely Rare
Global: 0.0%
0%
0.05%
0.1%
1%
5%
10%+
ACMG Criteria Applied
PM2
This variant is not present in gnomAD (PM2 criteria applies).
Classification
Likely Benign
Based on 1 submitter review in ClinVar
Submitter Breakdown
1 LB
Pathogenic
Likely Path.
VUS
Likely Benign
Benign
Publications (0)
No publication details.
Clinical Statement
This variant has been reported in ClinVar as Likely benign (1 clinical laboratories).
Functional Impact
Functional Domain
Hotspot Status
Not a hotspot
Domain Summary
This variant is not located in a mutational hotspot or critical domain (0 mutations).
Related Variants in This Domain
Computational Analysis
Pathogenicity Predictions
Predictor Consensus
Unknown
PP3 Applied
No
SpliceAI Scores Window: ±500bp
| Effect Type | Score | Position |
|---|---|---|
| Acceptor Loss | 0 | 0 bp |
| Donor Loss | 0 | 0 bp |
| Acceptor Gain | 0 | 0 bp |
| Donor Gain | 0 | 0 bp |
High impact (≥0.5)
Medium impact (0.2-0.49)
Low impact (<0.2)
VCEP Guidelines
Applied ACMG/AMP Criteria (VCEP Specific) VCEP Guidelines
PM2
PM2 (Unknown (Pre-LLM)) Strength Modified
From pre-LLM assessment (LLM Failed)
BP6
BP6 (Unknown (Pre-LLM)) Strength Modified
From pre-LLM assessment (LLM Failed)