7-140808351-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAA
Variant summary
Our verdict is . The variant received 2 ACMG points: 2P and 0B. PM2
Uncertain significance
The NM_004333.6(BRAF):c.609-296_609-290dupTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000637 in 156,980 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. The gene BRAF is included in the ClinGen Criteria Specification Registry.
Frequency
Genomes: not found (cov: 21)
Exomes 𝑓: 0.0000064 ( 0 hom. )
Consequence
BRAF
NM_004333.6 intron
NM_004333.6 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.618
Publications
0 publications found
Genes affected
BRAF (HGNC:1097): (B-Raf proto-oncogene, serine/threonine kinase) This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
BRAF Gene-Disease associations (from GenCC):
- cardiofaciocutaneous syndromeInheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: ClinGen, Orphanet
- cardiofaciocutaneous syndrome 1Inheritance: AD Classification: DEFINITIVE, STRONG Submitted by: Labcorp Genetics (formerly Invitae), Genomics England PanelApp, G2P, Ambry Genetics, PanelApp Australia
- LEOPARD syndrome 3Inheritance: AD Classification: DEFINITIVE, STRONG, LIMITED Submitted by: Genomics England PanelApp, Labcorp Genetics (formerly Invitae), G2P, Ambry Genetics, PanelApp Australia
- Noonan syndrome 7Inheritance: AD Classification: DEFINITIVE, STRONG, MODERATE Submitted by: Labcorp Genetics (formerly Invitae), Genomics England PanelApp, G2P, Ambry Genetics, PanelApp Australia
- large congenital melanocytic nevusInheritance: AD Classification: STRONG Submitted by: PanelApp Australia
- Noonan syndromeInheritance: AD Classification: MODERATE Submitted by: ClinGen
- Noonan syndrome with multiple lentiginesInheritance: AD Classification: SUPPORTIVE, LIMITED Submitted by: Orphanet, ClinGen
- anaplastic astrocytomaInheritance: AD Classification: LIMITED Submitted by: Ambry Genetics
- Costello syndromeInheritance: AD Classification: NO_KNOWN Submitted by: ClinGen
Genome browser will be placed here
new If you want to explore the variant's impact on the transcript NM_004333.6, check out the Mutation Effect Viewer. This is especially useful for frameshift variants or if you want to visualize the effect of exon loss / intron retention.
ACMG classification
Specifications for BRAF are available in the ClinGen Criteria Specification Registry and recommended for reference when assigning criteria.
Classification was made for transcript
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Variant Effect in Transcripts
ACMG analysis was done for transcript: NM_004333.6. You can select a different transcript below to see updated ACMG assignments.
RefSeq Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| BRAF | MANE Plus Clinical | c.609-296_609-290dupTTTTTTT | intron | N/A | NP_001361187.1 | A0A2R8Y8E0 | |||
| BRAF | MANE Select | c.609-296_609-290dupTTTTTTT | intron | N/A | NP_004324.2 | ||||
| BRAF | c.609-296_609-290dupTTTTTTT | intron | N/A | NP_001361173.1 | A0A2U3TZI2 |
Ensembl Transcripts
| Sel. | Gene | Transcript | Tags | HGVSc | HGVSp | Effect | Exon Rank | Protein | UniProt |
|---|---|---|---|---|---|---|---|---|---|
| BRAF | MANE Plus Clinical | c.609-290_609-289insTTTTTTT | intron | N/A | ENSP00000496776.1 | A0A2R8Y8E0 | |||
| BRAF | MANE Select | c.609-290_609-289insTTTTTTT | intron | N/A | ENSP00000493543.1 | P15056 | |||
| BRAF | TSL:1 | c.609-290_609-289insTTTTTTT | intron | N/A | ENSP00000288602.7 | A0A2U3TZI2 |
Frequencies
GnomAD3 genomes
GnomAD3 genomes
Cov.:
21
GnomAD4 exome AF: 0.00000637 AC: 1AN: 156980Hom.: 0 Cov.: 0 AF XY: 0.0000108 AC XY: 1AN XY: 92296 show subpopulations
GnomAD4 exome
AF:
AC:
1
AN:
156980
Hom.:
Cov.:
0
AF XY:
AC XY:
1
AN XY:
92296
show subpopulations
African (AFR)
AF:
AC:
0
AN:
3010
American (AMR)
AF:
AC:
0
AN:
7600
Ashkenazi Jewish (ASJ)
AF:
AC:
0
AN:
4280
East Asian (EAS)
AF:
AC:
0
AN:
5104
South Asian (SAS)
AF:
AC:
0
AN:
29638
European-Finnish (FIN)
AF:
AC:
0
AN:
6736
Middle Eastern (MID)
AF:
AC:
0
AN:
614
European-Non Finnish (NFE)
AF:
AC:
1
AN:
92786
Other (OTH)
AF:
AC:
0
AN:
7212
Allele Balance Distribution
Red line indicates average allele balance
Average allele balance: 0.425
Heterozygous variant carriers
0
0
1
1
2
2
0.00
0.20
0.40
0.60
0.80
0.95
Allele balance
GnomAD4 genome
GnomAD4 genome
Cov.:
21
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
PhyloP100
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.
Publications
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Other links and lift over
dbSNP: rs35843886 ;
hg19: chr7-140508151;