Genetic Information
Gene & Transcript Details
| ID | Status | Details |
|---|---|---|
| NM_000222.3 | MANE Select | 5147 nt | 59–2989 |
| NM_000222.2 | RefSeq Select | 5190 nt | 88–3018 |
| NM_000222.1 | Alternative | 5084 nt | 22–2952 |
Variant Details
Clinical & Population Data
Population Frequency
gnomADClinVar
OpenThis alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
"This variant has been reported in ClinVar as Uncertain significance (4 clinical laboratories) and as Likely benign (1 clinical laboratories)."
COSMIC Somatic Evidence
Open
Functional Impact & Domains
Functional Domain
The KIT S451P variant has not been functionally characterized, and its biological significance remains unknown.
Click on previews to view full database entries. External databases may require institutional access.
Computational Analysis
Pathogenicity Predictions
SpliceAISpliceAI Scores
Window: ±500bp| Effect Type | Score | Position |
|---|---|---|
| Acceptor Loss (AL) | 0.0 | 19 bp |
| Donor Loss (DL) | 0.0 | 189 bp |
| Acceptor Gain (AG) | 0.0 | -4 bp |
| Donor Gain (DG) | 0.0 | 120 bp |
VCEP Guidelines
Applied ACMG/AMP Criteria (VCEP Specific)
PM2 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)
BP4 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)