Genetic Information
Gene & Transcript Details
Gene
RUNX1
Transcript
NM_001001890.2
MANE Select
Total Exons
—
Reference Sequence
NC_000021.8
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_001001890.1 | Alternative | 7288 nt | 1579–2940 |
| NM_001001890.3 | Alternative | 7283 nt | 1588–2949 |
| NM_001001890.2 | Alternative | 7274 nt | 1579–2940 |
Variant Details
HGVS Notation
NM_001001890.2:c.1113C>T
Protein Change
A371=
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
OpenClassification
Uncertain Significance (VUS)
1 publications
Clinical Statement
"This variant has been reported in ClinVar as Likely benign (2 clinical laboratories) and as Uncertain Significance by ClinGen Myeloid Malignancy Variant Curation Expert Panel expert panel."
COSMIC Somatic Evidence
OpenCOSMIC ID
COSM9522512
Recurrence
2 occurrences
PM1 Criteria
Not Applied
COSMIC Database 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 RUNX1.
Functional Summary
Error in OpenAI Consolidation. OncoKB: RUNX1A371=RUNX1A371=SomaticNCBI Gene:861|Show additional gene information Variant OverviewRUNX1, a transcription factor involved in hematopoietic differentiation, is altered by mutation or chromosomal rearrangement in various hematologic malignancies.This is a synonymous mutation and is not annotated by OncoKB. 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
Unknown
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 | 226 bp |
| Donor Loss (DL) | 0.0 | 457 bp |
| Acceptor Gain (AG) | 0.0 | -52 bp |
| Donor Gain (DG) | 0.0 | 2 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)