Genetic Information
Gene & Transcript Details
Gene
STK11
Transcript
NM_000455.5
MANE Select
Total Exons
—
Reference Sequence
NC_000019.9
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_000455.4 | RefSeq Select | 3286 nt | 1116–2417 |
| NM_000455.5 | MANE Select | 3293 nt | 1137–2438 |
Variant Details
HGVS Notation
NM_000455.5:c.22C>G
Protein Change
Q8E
Location
Exon 1
(Exon 1 of )
1
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—
Clinical & Population Data
Population Frequency
gnomAD Global Frequency
0.000463 in 100,000
Extremely Rare
ACMG Criteria Applied
PM2
This variant is absent or extremely rare in population databases (PM2 criteria applies).
ClinVar
OpenClassification
Uncertain Significance (VUS)
2 publications
Clinical Statement
"This variant has been reported in ClinVar as Uncertain significance (4 clinical laboratories) and as Uncertain Significance (1 clinical laboratories)."
COSMIC Somatic Evidence
OpenCOSMIC ID
Recurrence
0 occurrences
PM1 Criteria
Not Applied
COSMIC Database Preview
Accessing full COSMIC database details requires institutional login or subscription.
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 STK11.
Functional Summary
Error in OpenAI Consolidation. OncoKB: STK11Q8ESTK11Q8ESomaticNCBI Gene:6794|Show additional gene information Variant OverviewSTK11, a tumor suppressor and intracellular kinase, is frequently mutated in lung cancer.The STK11 Q8E 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
JAX-CKB
Click on previews to view full database entries. External databases may require institutional access.
Computational Analysis
Pathogenicity Predictions
SpliceAIPredictor 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 | -102 bp |
| Donor Loss (DL) | 0.0 | 117 bp |
| Acceptor Gain (AG) | 0.0 | 0 bp |
| Donor Gain (DG) | 0.0 | 35 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)