chr7:140781611:C>A Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,481,411-140,481,411 View the variant detail on this assembly version.
hg38 chr7:140,781,611-140,781,611

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1517G>T NP_004324.2:p.Gly506Val
Ensemble ENST00000288602.11:c.1517G>T ENST00000288602.11:p.Gly506Val
ENST00000496384.7:c.1397G>T ENST00000496384.7:p.Gly466Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM451 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Pathogenic Likely pathogenic 2015-07-14 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma 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
colorectal cancer Panitumumab,Irinotecan D Predictive Supports Sensitivity/Response Somatic 3 28783719 Detail
colorectal cancer Vemurafenib D Predictive Does Not Support Sensitivity/Response Somatic 3 28783719 Detail
Solid Tumor Vemurafenib D Predictive Does Not Support Sensitivity/Response Somatic 3 28783719 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.055 adenocarcinoma Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed m... BeFree 12460919 Detail
0.244 Adenocarcinoma of lung (disorder) NA CLINVAR 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
In the study with a tumor from a patient with metastatic colorectal cancer BRAF (G466V) and wild-typ... CIViC Evidence Detail
In the study with a tumor from a patient with metastatic colorectal cancer BRAF (G466V) and wild-typ... CIViC Evidence Detail
RAF inhibitor vemurafenib failed to inhibit ERK signaling in tumor cells and NIH3T3 that express cla... CIViC Evidence Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Multiple myeloma ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Neoplasm of the large intestine ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) AND Squamous cell lung carcinoma ClinVar Detail
Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumo... DisGeNET Detail
NA 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
rs121913351 dbSNP
Genome
hg38
Position
chr7:140,781,611-140,781,611
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
G466V
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2222
Genome browser