Genetic Information

Gene & Transcript Details

Gene
CREB3L3
Transcript
NM_032607.3 MANE Select
Total Exons
—
Reference Sequence
NC_000019.9
Alternative Transcripts
IDStatusDetails
NM_032607.2 Alternative 2624 nt | 148–1533
NM_032607.1 Alternative 2586 nt | 117–1502
NM_032607.3 MANE Select 2588 nt | 118–1503

Variant Details

HGVS Notation
NM_032607.3:c.313G>A
Protein Change
G105R
Location
Exon 3 (Exon 3 of )
3
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—

Clinical & Population Data

Population Frequency

gnomAD
Global Frequency
0.372 in 100,000
Extremely Rare
ACMG Criteria Applied BS1

ClinVar

Open
Classification
Benign
1 publications
Clinical Statement

"This variant has been reported in ClinVar as Benign (2 clinical laboratories)."

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 CREB3L3.

Functional Studies & Therapeutic Relevance

Functional Summary

Error in OpenAI Consolidation. OncoKB: We do not have any information for this gene 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) 0.02 -18 bp
- Donor Loss (DL) 0.0 144 bp
+ Acceptor Gain (AG) 0.0 100 bp
+ Donor Gain (DG) 0.0 -201 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:
BP4

BP4 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)

BP6

BP6 (Unknown (Pre-LLM))

From pre-LLM assessment (LLM Failed)