Genetic Information
Gene & Transcript Details
Gene
BRAF
Transcript
NM_001354609.1
MANE Select
Total Exons
—
Reference Sequence
NC_000007.13
Alternative Transcripts
| ID | Status | Details |
|---|---|---|
| NM_001354609.2 | Alternative | 9687 nt | 227–2530 |
| NM_001354609.1 | Alternative | 9702 nt | 226–2529 |
Variant Details
HGVS Notation
NM_001354609.1:c.1929A>G
Protein Change
G643=
Location
Exon 16
(Exon 16 of )
16
5'Exon Structure3'
Functional Consequence
Loss of Function
Alternate Identifiers
—
Clinical & Population Data
Population Frequency
gnomAD Global Frequency
21.2 in 100,000
Extremely Rare
ACMG Criteria Applied
BA1
ClinVar
OpenClassification
Benign
1 publications
Clinical Statement
"This variant has been reported in ClinVar as Benign (13 clinical laboratories) and as Benign by ClinGen RASopathy Variant Curation Expert Panel expert panel."
COSMIC Somatic Evidence
OpenCOSMIC ID
COSM4161857
Recurrence
37 occurrences
PM1 Criteria
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 BRAF.
Functional Summary
Error in OpenAI Consolidation. OncoKB: BRAFG643=BRAFG643=SomaticNCBI Gene:673|Show additional gene information Variant OverviewBRAF, an intracellular kinase, is frequently mutated in melanoma, thyroid and lung cancers among others.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
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 | 68 bp |
| Donor Loss (DL) | 0.0 | 376 bp |
| Acceptor Gain (AG) | 0.0 | -298 bp |
| Donor Gain (DG) | 0.01 | -418 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:
BP4
BP4 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)
BP6
BP6 (Unknown (Pre-LLM))
From pre-LLM assessment (LLM Failed)