Genetic Information
Gene & Transcript Details
Gene
NF1
Transcript
NM_000267.3
MANE Select
Total Exons
—
Reference Sequence
NC_000017.10
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_000267.1 | Alternative | 8959 nt | 212–8668 |
| NM_000267.3 | Alternative | 12381 nt | 384–8840 |
| NM_000267.2 | Alternative | 12331 nt | 334–8790 |
Variant Details
HGVS Notation
NM_000267.3:c.8089_8093delinsGTTTT
Protein Change
F2697_S2698delinsVL
Location
Exon 55
(Exon 55 of )
55
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
Unknown
0 publications
Clinical Statement
""
COSMIC Somatic Evidence
OpenCOSMIC ID
Recurrence
0 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 NF1.
Functional Summary
Error in OpenAI Consolidation. OncoKB: NF1F2697_S2698delinsVLNF1F2697_S2698delinsVLSomaticNCBI Gene:4763|Show additional gene information Variant OverviewNF1, a negative regulator of RAS, is inactivated by mutation or deletion in various solid and hematologic malignancies.The NF1 F2697_S2698delinsVL alteration 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
Unknown
PP3 Applied
No
REVEL Score
0.0
Threshold: ≥0.75 = PP3 applied
SpliceAI Scores
Window: ±500bp| Effect Type | Score | Position |
|---|---|---|
| Acceptor Loss (AL) | 0.01 | -5 bp |
| Donor Loss (DL) | 0.0 | -375 bp |
| Acceptor Gain (AG) | 0.0 | -38 bp |
| Donor Gain (DG) | 0.0 | -385 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)