chr7:140781602:C>T Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,402-140,481,402 View the variant detail on this assembly version.
hg38 chr7:140,781,602-140,781,602

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1526G>A NP_004324.2:p.Gly509Glu
Ensemble ENST00000288602.11:c.1526G>A ENST00000288602.11:p.Gly509Glu
ENST00000496384.7:c.1406G>A ENST00000496384.7:p.Gly469Glu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 164757 OMIM
HGNC 1097 HGNC
Ensembl ENSG00000157764 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM461 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/11/30 lung adenocarcinoma (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2017/03/30 cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts cardiofaciocutaneous syndrome 1 germline unknown Detail
Pathogenic 2023-05-18 criteria provided, single submitter RASopathy germline unknown Detail
Pathogenic 2017-04-03 reviewed by expert panel Cardio-facio-cutaneous syndrome unknown germline Detail
Pathogenic 2022-06-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Pathogenic 2017-03-10 criteria provided, single submitter not specified germline Detail
Pathogenic 2021-03-05 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic criteria provided, single submitter Noonan syndrome 7 de novo Detail
Pathogenic no assertion criteria provided Noonan syndrome 1 de novo Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma Sorafenib D Predictive Supports Sensitivity/Response Somatic 3 18794803 Detail
skin melanoma U0126 D Predictive Supports Somatic 3 18794803 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.242 Lymphoma, Non-Hodgkin NA CLINVAR Detail
0.567 Cardio-facio-cutaneous syndrome NA CLINVAR Detail
0.049 Metastatic melanoma Thus, the mutation BRAF G469A in MM might be related to a weak effectiveness of ... BeFree 26070258 Detail
0.015 Malignant neoplasm of lung The three most common BRAF mutations in lung cancers accounted for only 41% of t... BeFree 26386083 Detail
0.125 Carcinoma of lung The three most common BRAF mutations in lung cancers accounted for only 41% of t... BeFree 26386083 Detail
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations ... CIViC Evidence Detail
In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations ... CIViC Evidence Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Cardiofaciocutaneous syndrome 1 ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Cardio-facio-cutaneous syndrome ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND not provided ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Neoplasm of the large intestine ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Squamous cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Prostate adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Multiple myeloma ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND not specified ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Noonan syndrome 7 ClinVar Detail
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) AND Noonan syndrome 1 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Thus, the mutation BRAF G469A in MM might be related to a weak effectiveness of therapy with BRAF in... DisGeNET Detail
The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mut... DisGeNET Detail
The three most common BRAF mutations in lung cancers accounted for only 41% of the observed BRAF mut... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121913355 dbSNP
Genome
hg38
Position
chr7:140,781,602-140,781,602
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121388
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.238046594391538E-6
Variant (CIViC) (CIViC Variant)
G469E
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/993
Summary (CIViC Variant)
The BRAF G469E mutation has a markedly reduced kinase activity and thus activates the MEK pathway through CRAF binding.
Genome browser