Genetic Information

Gene & Transcript Details

Gene
ASXL1
Transcript
NM_015338.5 MANE Select
Total Exons
—
Reference Sequence
NC_000020.10
Alternative Transcripts
IDStatusDetails
NM_015338.5 RefSeq Select 7056 nt | 433–5058
NM_015338.4 Alternative 7047 nt | 427–5052
NM_015338.3 Alternative 7026 nt | 420–5045
NM_015338.6 MANE Select 7052 nt | 446–5071

Variant Details

HGVS Notation
NM_015338.5:c.2281G>A
Protein Change
A761T
Location
Exon 13 (Exon 13 of )
13
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—

Clinical & Population Data

Population Frequency

gnomAD
Global Frequency
0.0123 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 (No data to parse)
0 publications
Clinical Statement

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COSMIC Somatic Evidence

Open
COSMIC ID
COSM5985455
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 ASXL1.

Functional Studies & Therapeutic Relevance

Functional Summary

Error in OpenAI Consolidation. OncoKB: ASXL1A761TASXL1A761TSomaticNCBI Gene:171023|Show additional gene information Variant OverviewASXL1, a tumor suppressor and epigenetic regulator, is inactivated by mutation in various cancer types, most frequently in myeloid malignancies.The ASXL1 A761T 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) 0.0 172 bp
- Donor Loss (DL) 0.0 -412 bp
+ Acceptor Gain (AG) 0.0 31 bp
+ Donor Gain (DG) 0.0 -222 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)