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NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

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Interpretation:
Pathogenic; drug response; other​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
39
First in ClinVar:
Jan 31, 2015
Most recent Submission:
Oct 1, 2022
Last evaluated:
Jul 11, 2014
Accession:
VCV000013961.71
Variation ID:
13961
Description:
single nucleotide variant
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NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)

Allele ID
29000
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q34
Genomic location
7: 140753336 (GRCh38) GRCh38 UCSC
7: 140453136 (GRCh37) GRCh37 UCSC
7: 140099605 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004333.6:c.1799T>A MANE Select NP_004324.2:p.Val600Glu missense
NM_001374258.1:c.1919T>A MANE Plus Clinical NP_001361187.1:p.Val640Glu missense
NM_001354609.2:c.1799T>A NP_001341538.1:p.Val600Glu missense
... more HGVS
Protein change
V600E, V512E, V578E, V603E, V548E, V566E, V563E, V640E
Other names
-
Canonical SPDI
NC_000007.14:140753335:A:T
Functional consequence
gain_of_function_variant [Sequence Ontology SO:0002053]
Increased function
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA123643
Genetic Testing Registry (GTR): GTR000522729
Genetic Testing Registry (GTR): GTR000560765
Genetic Testing Registry (GTR): GTR000575664
Genetic Testing Registry (GTR): GTR000575672
Genetic Testing Registry (GTR): GTR000575677
Genetic Testing Registry (GTR): GTR000597224
UniProtKB: P15056#VAR_018629
OMIM: 164757.0001
dbSNP: rs113488022
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 criteria provided, multiple submitters, no conflicts Jul 11, 2014 RCV000080903.10
Trametinib-Dabrafenib Response
drug response 1 criteria provided, single submitter - RCV001030018.3
other 1 criteria provided, single submitter - RCV001030023.3
Vemurafenib-Cobimetinib Response
drug response 1 criteria provided, single submitter - RCV001030020.3
Pathogenic 1 criteria provided, single submitter - RCV001847607.2
Pathogenic 1 no assertion criteria provided Sep 4, 2014 RCV000014992.17
Pathogenic 2 no assertion criteria provided Sep 4, 2014 RCV000014993.18
Pathogenic 1 no assertion criteria provided Sep 4, 2014 RCV000014994.17
Pathogenic 2 no assertion criteria provided May 29, 2009 RCV000037936.6
Pathogenic 1 no assertion criteria provided Sep 4, 2014 RCV000022677.17
Pathogenic 2 no assertion criteria provided Mar 10, 2016 RCV000067669.18
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000417746.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000424470.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000425847.2
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000432628.2
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000420614.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000425166.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000429915.2
Likely pathogenic 2 no assertion criteria provided Aug 31, 2019 RCV000430562.3
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000433305.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000435441.2
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000440802.2
Pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443745.2
Pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000440540.2
Likely pathogenic 1 no assertion criteria provided May 13, 2016 RCV000443448.2
Cystic epithelial invagination containing papillae lined by columnar epithelium
Pathogenic 2 no assertion criteria provided May 7, 2015 RCV000662278.3
Pathogenic 1 no assertion criteria provided - RCV000860020.2
Pathogenic 1 no assertion criteria provided Feb 15, 2019 RCV001248834.2
Likely pathogenic 1 no assertion criteria provided - RCV001254874.2
Pathogenic 1 no assertion criteria provided Feb 9, 2022 RCV002051586.3
not provided 1 no assertion provided - RCV000208763.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRAF Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
724 766

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Oct 08, 2013)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Eurofins NTD LLC (GA)
Accession: SCV000112810.8
First in ClinVar: Jan 17, 2014
Last updated: Jun 29, 2015
Other databases
http://www.egl-eurofins.com/emvc… http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRAF
Sex: mixed
drug response
(-)
criteria provided, single submitter
Method: curation
Trametinib-Dabrafenib Response
Drug used for Melanoma
Affected status: unknown
Allele origin: somatic
CIViC knowledgebase,Washington University School of Medicine
Accession: SCV001192822.1
First in ClinVar: Mar 29, 2020
Last updated: Mar 29, 2020
Comment:
AID7
Publications:
PubMed (4)
PubMed: 25265492230201322889140825399551
Other databases
https://civicdb.org/links/assert… https://civicdb.org/links/assertions/7
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/6938
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/6940
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/6178
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/3758
Comment:
BRAF V600E mutant melanoma is sensitive to dabrafenib and trametinib combination therapy. Combination treatment of BRAF inhibitor dabrafenib and MEK inhibitor trametinib is recommended for … (more)
drug response
(-)
criteria provided, single submitter
Method: curation
Vemurafenib-Cobimetinib Response
Drug used for Melanoma
Affected status: unknown
Allele origin: somatic
CIViC knowledgebase,Washington University School of Medicine
Accession: SCV001192824.1
First in ClinVar: Mar 29, 2020
Last updated: Mar 29, 2020
Comment:
AID10
Publications:
PubMed (3)
PubMed: 250371392748010325265494
Other databases
https://civicdb.org/links/assert… https://civicdb.org/links/assertions/10
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/6966
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/6044
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/1421
Comment:
BRAF V600E mutant melanoma is sensitive to vemurafenib and cobimetinib combination therapy. Vemurafenib and cobimetinib combination is an FDA approved and NCCN Category 1 first … (more)
other
(-)
criteria provided, single submitter
Method: curation
Colorectal cancer
Affected status: unknown
Allele origin: somatic
CIViC knowledgebase,Washington University School of Medicine
Accession: SCV001192827.1
First in ClinVar: Mar 29, 2020
Last updated: Mar 29, 2020
Comment:
AID20
Publications:
PubMed (6)
Other databases
https://civicdb.org/links/assert… https://civicdb.org/links/assertions/20
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/7159
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/7158
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/7157
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/7156
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/103
https://civicdb.org/links/eviden… https://civicdb.org/links/evidence/1552
Comment:
BRAF V600E indicates poor prognosis in advanced colorectal cancer. BRAF V600E was associated with worse prognosis in Phase II and III colorectal cancer, with a … (more)
Pathogenic
(Jul 11, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: yes
Allele origin: germline
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital
Accession: SCV001450230.1
First in ClinVar: Dec 12, 2020
Last updated: Dec 12, 2020
Number of individuals with the variant: 5
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
see cases
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
Accession: SCV002104274.1
First in ClinVar: Mar 19, 2022
Last updated: Mar 19, 2022
Publications:
PubMed (1)
PubMed: 31277584
Comment:
Commonly referred to as BRAF p.V600E, this is a hotspot mutation that occurs within the kinase domain and results in constitutive activation of BRAF kinase … (more)

Observation 1:

Clinical Features:
Capillary malformation (present)
Sex: male
Comment on evidence:
This variant was identified in 11% of reads, consistent with somatic origin
Testing laboratory: Seattle Children's Hospital

Observation 2:

Clinical Features:
Vascular skin abnormality (present)
Sex: female
Comment on evidence:
This variant was identified in 2% of reads, consistent with somatic origin. There are rare reports of BRAF p.V600E as a somatic change in patients … (more)
Testing laboratory: Seattle Children's Hospital
Testing laboratory interpretation: Pathogenic

Observation 3:

Indication for testing: Verrucous hemangioma on the left lower extremity and port wine stain left upper extremity. Left limbs shorter than right limbs
Sex: male
Comment on evidence:
This variant was identified in 0.7% of reads, consistent with somatic origin.
Testing laboratory: Seattle Children's Hospital

Observation 4:

Clinical Features:
Abnormal lymphatic vessel morphology (present)
Sex: female
Comment on evidence:
This variant was identified in 1.4% of reads, consistent with somatic origin
Testing laboratory: Seattle Children's Hospital
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Gastrointestinal stromal tumor
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504248.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (6)
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Pathogenic
(Mar 10, 2016)
no assertion criteria provided
Method: literature only
Melanoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504249.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (30)
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Lung cancer
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504250.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (12)
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504251.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (24)
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504252.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Neoplasm of ovary
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504253.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (7)
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 13, 2016)
no assertion criteria provided
Method: literature only
Neoplasm
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504254.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 15035987
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Brainstem glioma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504255.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of brain
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504256.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (3)
PubMed: 266190112203899622586120
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504257.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504258.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Colonic neoplasm
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504260.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (2)
PubMed: 2515796822281684
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Multiple myeloma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504261.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Papillary renal cell carcinoma, sporadic
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504262.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504264.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
Pathogenic
(May 07, 2015)
no assertion criteria provided
Method: literature only
Cystic epithelial invagination containing papillae lined by columnar epithelium
Affected status: yes
Allele origin: somatic
Yale Center for Mendelian Genomics,Yale University
Accession: SCV000784606.1
First in ClinVar: Jul 14, 2018
Last updated: Jul 14, 2018
Publications:
PubMed (1)
PubMed: 25950823
Zygosity: 4 Single Heterozygote
Pathogenic
(May 29, 2009)
no assertion criteria provided
Method: clinical testing
Non-small cell lung carcinoma
Affected status: not provided
Allele origin: somatic
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine
Accession: SCV000061601.3
First in ClinVar: May 03, 2013
Last updated: Jan 31, 2015
Publications:
PubMed (1)
PubMed: 12068308
Number of individuals with the variant: 49
Pathogenic
(-)
no assertion criteria provided
Method: research
Cerebral arteriovenous malformation
Affected status: yes
Allele origin: somatic
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School
Accession: SCV000992587.1
First in ClinVar: Dec 17, 2019
Last updated: Dec 17, 2019
Publications:
PubMed (1)
PubMed: 31891627
Number of individuals with the variant: 1
Age: 20-29 years
Sex: female
Pathogenic
(Feb 15, 2019)
no assertion criteria provided
Method: clinical testing
Wilms Tumor
Affected status: yes
Allele origin: somatic
Pediatric Oncology, Johns Hopkins University
Accession: SCV001147031.1
First in ClinVar: Jul 19, 2020
Last updated: Jul 19, 2020
Sex: male
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Cancer
Affected status: unknown
Allele origin: unknown
Investigational Cancer Therapeutics,MD Anderson Cancer Center
Accession: SCV001424772.1
First in ClinVar: Aug 29, 2020
Last updated: Aug 29, 2020
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Affected status: yes
Allele origin: unknown
Department of Pathology and Laboratory Medicine,Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001550994.1
First in ClinVar: Apr 13, 2021
Last updated: Apr 13, 2021
Number of individuals with the variant: 1
Pathogenic
(Sep 04, 2014)
no assertion criteria provided
Method: literature only
NONSEMINOMATOUS GERM CELL TUMORS, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000043966.13
First in ClinVar: Apr 04, 2013
Last updated: Mar 28, 2022
Publications:
PubMed (41)
Comment on evidence:
The val600-to-glu (V600E) mutation caused by a 1799T-A transversion in the BRAF gene was previously designated VAL599GLU (1796T-A). Kumar et al. (2003) noted that an … (more)
Pathogenic
(May 07, 2015)
no assertion criteria provided
Method: literature only
cystic epithelial invagination containing papillae lined by columnar epithelium
Affected status: yes
Allele origin: somatic
Yale Center for Mendelian Genomics,Yale University
Study: Yale Center for Mendelian Genomics
Accession: SCV002106413.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Publications:
PubMed (1)
PubMed: 25950823
Zygosity: 4 Single Heterozygote
Pathogenic
(Feb 09, 2022)
no assertion criteria provided
Method: research
Lymphangioma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
James Bennett Lab,Seattle Childrens Research Institute
Accession: SCV002318371.1
First in ClinVar: Mar 28, 2022
Last updated: Mar 28, 2022
Comment:
The Val600Glu variant in BRAF was observed at very low levels (VAF 0.3-2%) in lymphatic malformation tissue from three unrelated individuals using high depth NGS … (more)
Number of individuals with the variant: 3
Clinical Features:
Abnormal lymphatic vessel morphology (present)
Age: 1-12 months
Sex: mixed
Likely pathogenic
(Aug 31, 2019)
no assertion criteria provided
Method: clinical testing
Multiple myeloma
Affected status: yes
Allele origin: somatic
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center
Accession: SCV001132084.1
First in ClinVar: Dec 23, 2019
Last updated: Dec 23, 2019
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
not provided
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Sylvester Comprehensive Cancer Center,University of Miami
Accession: SCV001962698.1
First in ClinVar: Oct 16, 2021
Last updated: Oct 16, 2021
Publications:
PubMed (2)
PubMed: 2203942534476331
Comment:
BRAF V600E variant is involved in encoding cytoplasmic serine/threonine kinases within the MAPK pathway. The NCCN Guidelines state that BRAF mutations are an indicative prognostic … (more)
Zygosity: 1 Single Heterozygote
Age: 50-59 years
Ethnicity/Population group: White
Geographic origin: United States of America
Testing laboratory: CARIS
Date variant was reported to submitter: 2019-08-30
Testing laboratory interpretation: Pathogenic
Pathogenic
(Sep 04, 2014)
no assertion criteria provided
Method: literature only
MELANOMA, MALIGNANT, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000035247.13
First in ClinVar: Apr 04, 2013
Last updated: Mar 28, 2022
Publications:
PubMed (41)
Comment on evidence:
The val600-to-glu (V600E) mutation caused by a 1799T-A transversion in the BRAF gene was previously designated VAL599GLU (1796T-A). Kumar et al. (2003) noted that an … (more)
Pathogenic
(Sep 04, 2014)
no assertion criteria provided
Method: literature only
COLORECTAL CANCER, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000035248.13
First in ClinVar: Apr 04, 2013
Last updated: Mar 28, 2022
Publications:
PubMed (41)
Comment on evidence:
The val600-to-glu (V600E) mutation caused by a 1799T-A transversion in the BRAF gene was previously designated VAL599GLU (1796T-A). Kumar et al. (2003) noted that an … (more)
Pathogenic
(Sep 04, 2014)
no assertion criteria provided
Method: literature only
THYROID CARCINOMA, PAPILLARY, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000035249.13
First in ClinVar: Apr 04, 2013
Last updated: Mar 28, 2022
Publications:
PubMed (41)
Comment on evidence:
The val600-to-glu (V600E) mutation caused by a 1799T-A transversion in the BRAF gene was previously designated VAL599GLU (1796T-A). Kumar et al. (2003) noted that an … (more)
Pathogenic
(Sep 04, 2014)
no assertion criteria provided
Method: literature only
ASTROCYTOMA, LOW-GRADE, SOMATIC
Affected status: not provided
Allele origin: somatic
OMIM
Accession: SCV000035250.13
First in ClinVar: Apr 04, 2013
Last updated: Mar 28, 2022
Publications:
PubMed (41)
Comment on evidence:
The val600-to-glu (V600E) mutation caused by a 1799T-A transversion in the BRAF gene was previously designated VAL599GLU (1796T-A). Kumar et al. (2003) noted that an … (more)
not provided
(Mar 10, 2016)
no assertion provided
Method: literature only
Non-small cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504259.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 23524406
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
not provided
(Mar 10, 2016)
no assertion provided
Method: literature only
None
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504263.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 25024077
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A
not provided
(-)
no assertion provided
Method: literature only
Cardio-facio-cutaneous syndrome
Affected status: yes
Allele origin: somatic
GeneReviews
Accession: SCV000264636.2
First in ClinVar: Mar 05, 2016
Last updated: Oct 01, 2022
Comment:
p.Val600Glu is a somatic pathogenic variant found in some solid tumors
Publications:

Functional evidence

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Functional consequence Method Result Submitter Supporting information
Increased function
  1. Method not provided
  1. Result not provided
James Bennett Lab,Seattle Childrens Research Institute
Accession: SCV002318371.1
Submitted: (Mar 25, 2022)
Evidence details
gain_of_function_variant
Sylvester Comprehensive Cancer Center,University of Miami
Accession: SCV001962698.1
Submitted: (Oct 06, 2021)
Evidence details
Publications
PubMed (2)

Citations for this variant

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Title Author Journal Year Link
Retrospective Case Series Analysis of <i>RAF</i> Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies. Hendifar A JCO precision oncology 2021 PMID: 34476331
Somatic mutations in intracranial arteriovenous malformations. Goss JA PloS one 2019 PMID: 31891627
Clinical mutational profiling and categorization of BRAF mutations in melanomas using next generation sequencing. Lokhandwala PM BMC cancer 2019 PMID: 31277584
Codon-specific translation reprogramming promotes resistance to targeted therapy. Rapino F Nature 2018 PMID: 29925953
Adjuvant Dabrafenib plus Trametinib in Stage III BRAF-Mutated Melanoma. Long GV The New England journal of medicine 2017 PMID: 28891408
A somatic mutation in erythro-myeloid progenitors causes neurodegenerative disease. Mass E Nature 2017 PMID: 28854169
Cobimetinib combined with vemurafenib in advanced BRAF(V600)-mutant melanoma (coBRIM): updated efficacy results from a randomised, double-blind, phase 3 trial. Ascierto PA The Lancet. Oncology 2016 PMID: 27480103
Colorectal Cancer with BRAF D594G Mutation Is Not Associated with Microsatellite Instability or Poor Prognosis. Amaki-Takao M Oncology 2016 PMID: 27404270
Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. Penna I Oncotarget 2016 PMID: 26678033
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Cardiofaciocutaneous Syndrome Rauen KA - 2016 PMID: 20301365
Cardiofaciocutaneous Syndrome Rauen KA - 2016 BookShelf: NBK1186
Meta-analysis of BRAF mutation as a predictive biomarker of benefit from anti-EGFR monoclonal antibody therapy for RAS wild-type metastatic colorectal cancer. Rowland A British journal of cancer 2015 PMID: 25989278
Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. Levinsohn JL The Journal of investigative dermatology 2015 PMID: 25950823
Improved overall survival in melanoma with combined dabrafenib and trametinib. Robert C The New England journal of medicine 2015 PMID: 25399551
First-in-human phase I study of pictilisib (GDC-0941), a potent pan-class I phosphatidylinositol-3-kinase (PI3K) inhibitor, in patients with advanced solid tumors. Sarker D Clinical cancer research : an official journal of the American Association for Cancer Research 2015 PMID: 25370471
Combined vemurafenib and cobimetinib in BRAF-mutated melanoma. Larkin J The New England journal of medicine 2014 PMID: 25265494
Combined BRAF and MEK inhibition versus BRAF inhibition alone in melanoma. Long GV The New England journal of medicine 2014 PMID: 25265492
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
eIF4F is a nexus of resistance to anti-BRAF and anti-MEK cancer therapies. Boussemart L Nature 2014 PMID: 25079330
Combination of vemurafenib and cobimetinib in patients with advanced BRAF(V600)-mutated melanoma: a phase 1b study. Ribas A The Lancet. Oncology 2014 PMID: 25037139
BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. Xing M Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2014 PMID: 25024077
Copper is required for oncogenic BRAF signalling and tumorigenesis. Brady DC Nature 2014 PMID: 24717435
Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. Sun C Nature 2014 PMID: 24670642
BRAFV600E mutation and its association with clinicopathological features of colorectal cancer: a systematic review and meta-analysis. Chen D PloS one 2014 PMID: 24594804
BRAF-V600 mutations have no prognostic impact in stage IV melanoma patients treated with monochemotherapy. Meckbach D PloS one 2014 PMID: 24586605
Dabrafenib and trametinib, alone and in combination for BRAF-mutant metastatic melanoma. Menzies AM Clinical cancer research : an official journal of the American Association for Cancer Research 2014 PMID: 24583796
Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. Nissan MH Cancer research 2014 PMID: 24576830
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. Gala MK Gastroenterology 2014 PMID: 24512911
Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. McArthur GA The Lancet. Oncology 2014 PMID: 24508103
Prognostic value of BRAF mutations in localized cutaneous melanoma. Nagore E Journal of the American Academy of Dermatology 2014 PMID: 24388723
mTOR inhibition specifically sensitizes colorectal cancers with KRAS or BRAF mutations to BCL-2/BCL-XL inhibition by suppressing MCL-1. Faber AC Cancer discovery 2014 PMID: 24163374
BRAF mutation is associated with distinct clinicopathological characteristics in colorectal cancer: a systematic review and meta-analysis. Clancy C Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2013 PMID: 24112392
BRAF V600E is a determinant of sensitivity to proteasome inhibitors. Zecchin D Molecular cancer therapeutics 2013 PMID: 24107445
Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. Ascierto PA Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013 PMID: 23918947
A genetic progression model of Braf(V600E)-induced intestinal tumorigenesis reveals targets for therapeutic intervention. Rad R Cancer cell 2013 PMID: 23845441
Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. Cardarella S Clinical cancer research : an official journal of the American Association for Cancer Research 2013 PMID: 23833300
Vemurafenib synergizes with nutlin-3 to deplete survivin and suppresses melanoma viability and tumor growth. Ji Z Clinical cancer research : an official journal of the American Association for Cancer Research 2013 PMID: 23812671
A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence. Kaplon J Nature 2013 PMID: 23685455
Discovery of a novel ERK inhibitor with activity in models of acquired resistance to BRAF and MEK inhibitors. Morris EJ Cancer discovery 2013 PMID: 23614898
Concomitant BRAF and PI3K/mTOR blockade is required for effective treatment of BRAF(V600E) colorectal cancer. Coffee EM Clinical cancer research : an official journal of the American Association for Cancer Research 2013 PMID: 23549875
Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer. Rudin CM Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2013 PMID: 23524406
BRAF mutant gastrointestinal stromal tumor: first report of regression with BRAF inhibitor dabrafenib (GSK2118436) and whole exomic sequencing for analysis of acquired resistance. Falchook GS Oncotarget 2013 PMID: 23470635
Massively parallel tumor multigene sequencing to evaluate response to panitumumab in a randomized phase III study of metastatic colorectal cancer. Peeters M Clinical cancer research : an official journal of the American Association for Cancer Research 2013 PMID: 23325582
Modelling vemurafenib resistance in melanoma reveals a strategy to forestall drug resistance. Das Thakur M Nature 2013 PMID: 23302800
Resistance to BRAF inhibition in BRAF-mutant colon cancer can be overcome with PI3K inhibition or demethylating agents. Mao M Clinical cancer research : an official journal of the American Association for Cancer Research 2013 PMID: 23251002
Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. Patel SP Cancer 2013 PMID: 22972589
Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. Ponti G Journal of hematology & oncology 2012 PMID: 23031422
Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. Flaherty KT The New England journal of medicine 2012 PMID: 23020132
Dual suppression of the cyclin-dependent kinase inhibitors CDKN2C and CDKN1A in human melanoma. Jalili A Journal of the National Cancer Institute 2012 PMID: 22997239
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. Falchook GS The Lancet. Oncology 2012 PMID: 22805292
Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1. Ohashi K Proceedings of the National Academy of Sciences of the United States of America 2012 PMID: 22773810
A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib. Gautschi O Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2012 PMID: 22743296
Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Hauschild A Lancet (London, England) 2012 PMID: 22735384
Improved survival with MEK inhibition in BRAF-mutated melanoma. Flaherty KT The New England journal of medicine 2012 PMID: 22663011
Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. Sen B Science translational medicine 2012 PMID: 22649091
Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. Falchook GS Lancet (London, England) 2012 PMID: 22608338
Cooperative interactions of BRAFV600E kinase and CDKN2A locus deficiency in pediatric malignant astrocytoma as a basis for rational therapy. Huillard E Proceedings of the National Academy of Sciences of the United States of America 2012 PMID: 22586120
Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. Lovly CM PloS one 2012 PMID: 22536370
EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. Corcoran RB Cancer discovery 2012 PMID: 22448344
Combinations of BRAF, MEK, and PI3K/mTOR inhibitors overcome acquired resistance to the BRAF inhibitor GSK2118436 dabrafenib, mediated by NRAS or MEK mutations. Greger JG Molecular cancer therapeutics 2012 PMID: 22389471
Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. Sosman JA The New England journal of medicine 2012 PMID: 22356324
The HSP90 inhibitor XL888 overcomes BRAF inhibitor resistance mediated through diverse mechanisms. Paraiso KH Clinical cancer research : an official journal of the American Association for Cancer Research 2012 PMID: 22351686
Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Prahallad A Nature 2012 PMID: 22281684
Antitumor activity of BRAF inhibitor vemurafenib in preclinical models of BRAF-mutant colorectal cancer. Yang H Cancer research 2012 PMID: 22180495
Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. Kirkwood JM Clinical cancer research : an official journal of the American Association for Cancer Research 2012 PMID: 22048237
RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). Poulikakos PI Nature 2011 PMID: 22113612
BRAF mutations in advanced cancers: clinical characteristics and outcomes. El-Osta H PloS one 2011 PMID: 22039425
Targeted therapy for BRAFV600E malignant astrocytoma. Nicolaides TP Clinical cancer research : an official journal of the American Association for Cancer Research 2011 PMID: 22038996
Epidermal growth factor receptor blockers for the treatment of ovarian cancer. Haldar K The Cochrane database of systematic reviews 2011 PMID: 21975775
Molecular pathogenesis and extraovarian origin of epithelial ovarian cancer--shifting the paradigm. Kurman RJ Human pathology 2011 PMID: 21683865
Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial. Maughan TS Lancet (London, England) 2011 PMID: 21641636
Improved survival with vemurafenib in melanoma with BRAF V600E mutation. Chapman PB The New England journal of medicine 2011 PMID: 21639808
Cetuximab plus irinotecan, fluorouracil, and leucovorin as first-line treatment for metastatic colorectal cancer: updated analysis of overall survival according to tumor KRAS and BRAF mutation status. Van Cutsem E Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 PMID: 21502544
Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. Paik PK Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2011 PMID: 21483012
BRAF as a target for cancer therapy. Dienstmann R Anti-cancer agents in medicinal chemistry 2011 PMID: 21426297
KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. De Roock W The Lancet. Oncology 2011 PMID: 21163703
BRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis. Mao C Molecular biology reports 2011 PMID: 20857202
Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. Villanueva J Cancer cell 2010 PMID: 21156289
Prognostic vs predictive molecular biomarkers in colorectal cancer: is KRAS and BRAF wild type status required for anti-EGFR therapy? Rizzo S Cancer treatment reviews 2010 PMID: 21129611
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nazarian R Nature 2010 PMID: 21107323
COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. Johannessen CM Nature 2010 PMID: 21107320
Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. Bollag G Nature 2010 PMID: 20823850
Inhibition of mutated, activated BRAF in metastatic melanoma. Flaherty KT The New England journal of medicine 2010 PMID: 20818844
Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. Rubinstein JC Journal of translational medicine 2010 PMID: 20630094
Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. De Roock W The Lancet. Oncology 2010 PMID: 20619739
Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. Tol J European journal of cancer (Oxford, England : 1990) 2010 PMID: 20413299
Prognostic and predictive biomarkers in resected colon cancer: current status and future perspectives for integrating genomics into biomarker discovery. Tejpar S The oncologist 2010 PMID: 20350999
Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60-00 trial. Roth AD Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010 PMID: 20008640
BRAF mutation in metastatic colorectal cancer. Tol J The New England journal of medicine 2009 PMID: 19571295
V600E BRAF mutations are alternative early molecular events in a subset of KIT/PDGFRA wild-type gastrointestinal stromal tumours. Agaimy A Journal of clinical pathology 2009 PMID: 19561230
Clinical biomarkers in oncology: focus on colorectal cancer. De Roock W Molecular diagnosis & therapy 2009 PMID: 19537845
Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. Boulalas I The International journal of biological markers 2009 PMID: 19404918
Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. Gandhi J PloS one 2009 PMID: 19238210
KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. Nakayama N British journal of cancer 2008 PMID: 19018267
Genetic predictors of MEK dependence in non-small cell lung cancer. Pratilas CA Cancer research 2008 PMID: 19010912
Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. Di Nicolantonio F Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008 PMID: 19001320
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. Pfister S The Journal of clinical investigation 2008 PMID: 18398503
Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. Lupi C The Journal of clinical endocrinology and metabolism 2007 PMID: 17785355
BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism. Durante C The Journal of clinical endocrinology and metabolism 2007 PMID: 17488796
BRAF V600E maintains proliferation, transformation, and tumorigenicity of BRAF-mutant papillary thyroid cancer cells. Liu D The Journal of clinical endocrinology and metabolism 2007 PMID: 17374713
Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer. Jo YS The Journal of clinical endocrinology and metabolism 2006 PMID: 16772349
High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Hishinuma A Thyroid : official journal of the American Thyroid Association 2005 PMID: 16187918
BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. Xing M The Journal of clinical endocrinology and metabolism 2005 PMID: 16174717
BRAF mutations in colorectal carcinoma suggest two entities of microsatellite-unstable tumors. Lubomierski N Cancer 2005 PMID: 16015629
High prevalence and possible de novo formation of BRAF mutation in metastasized papillary thyroid cancer in lymph nodes. Vasko V The Journal of clinical endocrinology and metabolism 2005 PMID: 15998781
Silencing of the tumor suppressor gene SLC5A8 is associated with BRAF mutations in classical papillary thyroid carcinomas. Porra V The Journal of clinical endocrinology and metabolism 2005 PMID: 15687339
Mutations of BRAF and RAS are rare events in germ cell tumours. Sommerer F International journal of cancer 2005 PMID: 15386408
Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas. Kumagai A The Journal of clinical endocrinology and metabolism 2004 PMID: 15356022
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. Domingo E Journal of medical genetics 2004 PMID: 15342696
Detection of BRAF mutation on fine needle aspiration biopsy specimens: a new diagnostic tool for papillary thyroid cancer. Xing M The Journal of clinical endocrinology and metabolism 2004 PMID: 15181070
BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas. Puxeddu E The Journal of clinical endocrinology and metabolism 2004 PMID: 15126572
Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Wan PT Cell 2004 PMID: 15035987
BRAF T1796A transversion mutation in various thyroid neoplasms. Xing M The Journal of clinical endocrinology and metabolism 2004 PMID: 15001635
Determinants of BRAF mutations in primary melanomas. Maldonado JL Journal of the National Cancer Institute 2003 PMID: 14679157
BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. Nikiforova MN The Journal of clinical endocrinology and metabolism 2003 PMID: 14602780
Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers. Kim IJ Human genetics 2003 PMID: 14513361
BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Kumar R Clinical cancer research : an official journal of the American Association for Cancer Research 2003 PMID: 12960123
Exclusion of BRAFV599E as a melanoma susceptibility mutation. Meyer P International journal of cancer 2003 PMID: 12794760
High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Kimura ET Cancer research 2003 PMID: 12670889
Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma. Singer G Journal of the National Cancer Institute 2003 PMID: 12644542
Absence of exon 15 BRAF germline mutations in familial melanoma. Lang J Human mutation 2003 PMID: 12619120
High frequency of BRAF mutations in nevi. Pollock PM Nature genetics 2003 PMID: 12447372
Missense mutations of the BRAF gene in human lung adenocarcinoma. Naoki K Cancer research 2002 PMID: 12460919
BRAF and RAS mutations in human lung cancer and melanoma. Brose MS Cancer research 2002 PMID: 12460918
Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Rajagopalan H Nature 2002 PMID: 12198537
Mutations of the BRAF gene in human cancer. Davies H Nature 2002 PMID: 12068308
http://docm.genome.wustl.edu/variants/ENST00000288602:c.1799T>A - - - -
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRAF - - - -
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https://civicdb.org/links/evidence/103 - - - -
https://civicdb.org/links/evidence/1421 - - - -
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Text-mined citations for rs113488022...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 01, 2022