chr7:140481402:C>G Detail (hg19) (BRAF)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1526G>C NP_004324.2:p.Gly509Ala
Ensemble ENST00000288602.11:c.1526G>C ENST00000288602.11:p.Gly509Ala
ENST00000496384.7:c.1406G>C ENST00000496384.7:p.Gly469Ala
Summary

MGeND

Clinical significance not provided
Variant entry 15
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM460 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Primary adenocarcinoma of colon (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-11-17 no assertion criteria provided non-Hodgkin lymphoma somatic Detail
Pathogenic 2014-08-25 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic 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 Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Vemurafenib C Predictive Does Not Support Sensitivity/Response Somatic 2 29320312 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
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... CIViC Evidence Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Non-Hodgkin lymphoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Neoplasm of the large intestine ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Neoplasm ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Squamous cell carcinoma of the skin ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Squamous cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Prostate adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) AND Multiple myeloma 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
hg19
Position
chr7:140,481,402-140,481,402
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
G469A
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/992
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