chr7:140753354:T>C Detail (hg38) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,154-140,453,154 View the variant detail on this assembly version.
hg38 chr7:140,753,354-140,753,354

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1901A>G NP_004324.2:p.Asp634Gly
Ensemble ENST00000646891.2:c.1781A>G ENST00000646891.2:p.Asp594Gly
ENST00000496384.7:c.1781A>G ENST00000496384.7:p.Asp594Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM467 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-11-17 no assertion criteria provided non-Hodgkin lymphoma somatic Detail
Pathogenic 2012-06-11 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia 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 lung adenocarcinoma somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Adrenal cortex 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Uncertain significance 2021-08-03 criteria provided, single submitter RASopathy germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer B Prognostic Supports Poor Outcome Somatic 1 27404270 Detail
colorectal cancer B Prognostic Supports Poor Outcome Somatic 2 27404270 Detail
colorectal cancer Panitumumab,Cetuximab C Predictive Does Not Support Resistance Somatic 1 27404270 Detail
colorectal cancer Cetuximab,Irinotecan C Predictive Supports Resistance Somatic 3 26989027 Detail
skin melanoma Sorafenib D Predictive Supports Sensitivity/Response Somatic 3 18794803 Detail
skin melanoma U0126 D Predictive Supports Resistance 3 18794803 Detail
Solid Tumor Vemurafenib D Predictive Does Not Support Sensitivity/Response Somatic 3 28783719 Detail
cancer Trametinib D Predictive Supports Sensitivity/Response Somatic 2 28783719 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.242 Lymphoma, Non-Hodgkin NA CLINVAR Detail
0.001 Melanocytic nevus of skin The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus ha... BeFree 15009715 Detail
0.004 Nevus The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus ha... BeFree 15009715 Detail
0.001 Benign melanocytic nevus The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus ha... BeFree 15009715 Detail
0.002 follicular adenoma BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along wi... BeFree 19269016 Detail
0.120 B-Cell Lymphomas Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
<0.001 diffuse large B-cell lymphoma Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
0.002 Thyroid Gland Follicular Adenoma BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along wi... BeFree 19269016 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
<0.001 diffuse large B-cell lymphoma Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
0.001 B-Cell Lymphomas Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... BeFree 22575864 Detail
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
0.002 Papillary microcarcinoma BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along wi... BeFree 19269016 Detail
Annotation

Annotations

DescrptionSourceLinks
In a study of 908 patients with colorectal cancer, 7 patients had BRAF (D594G) mutations and 45 pati... CIViC Evidence Detail
In a study of 908 patients with colorectal cancer (CRC), 7 patients had BRAF D595G mutations and 589... CIViC Evidence Detail
Two patients with stage IV BRAF (D594G) mutations received anti-EGFR antibody therapy (cetuximab and... CIViC Evidence Detail
In a retrospective study of 53, KRAS exon 2 wild-type, metastatic colorectal cancer patients, patien... CIViC Evidence Detail
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
RAF inhibitor vemurafenib failed to inhibit ERK signaling in tumor cells and NIH3T3 that express cla... CIViC Evidence Detail
In a BRAF-mutation inducible model in the NIH3T3 cell line, class 3 BRAF mutations (G466V, G466E, D5... CIViC Evidence Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Non-Hodgkin lymphoma ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Adrenal cortex carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Multiple myeloma ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Neoplasm of brain ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND Neoplasm of the large intestine ClinVar Detail
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) AND RASopathy ClinVar Detail
NA DisGeNET Detail
The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D5... DisGeNET Detail
The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D5... DisGeNET Detail
The predominant BRAF mutation T1799A (V600E) was detected in 18 nevi; 1 nevus had a novel A1781G (D5... DisGeNET Detail
BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along with p.G606G silent ch... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along with p.G606G silent ch... 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
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... DisGeNET Detail
NA DisGeNET Detail
BRAF(V600E) mutation and the previously unreported BRAF(G593D) mutation along with p.G606G silent ch... 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
rs121913338 dbSNP
Genome
hg38
Position
chr7:140,753,354-140,753,354
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
D594G
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/611
Summary (CIViC Variant)
This BRAF mutation has a markedly reduced kinase activity and leads to paradoxical MEK-pathway activation via CRAF binding.
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