chr7:140453134:T>C Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,134-140,453,134
hg38 chr7:140,753,334-140,753,334 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1921A>G NP_004324.2:p.Lys641Glu
Ensemble ENST00000496384.7:c.1801A>G ENST00000496384.7:p.Lys601Glu
ENST00000288602.11:c.1921A>G ENST00000288602.11:p.Lys641Glu
Summary

MGeND

Clinical significance not provided
Variant entry 29
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 COSM478 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided descending colon not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas 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 head of pancreas not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
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 2005-09-01 no assertion criteria provided Carcinoma of colon somatic Detail
Pathogenic 2005-09-01 no assertion criteria provided Thyroid cancer, nonmedullary, 2 somatic Detail
Pathogenic 2011-08-23 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric 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 Thyroid tumor 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 B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-13 no assertion criteria provided Neoplasm somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma Trametinib,Vemurafenib D Predictive Supports Sensitivity/Response Somatic 3 22798288 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Splenic Marginal Zone B-Cell Lymphoma A BRAF K601E mutation was detected in a patient with splenic marginal zone lymph... BeFree 22133769 Detail
0.002 Thyroid Gland Follicular Adenoma A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. BeFree 12881714 Detail
<0.001 Traditional Serrated Adenoma We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
0.124 Follicular thyroid carcinoma NA CLINVAR Detail
0.049 Metastatic melanoma Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic mela... BeFree 24933606 Detail
0.080 Adenomatous Polyposis Coli We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
<0.001 Traditional Serrated Adenoma We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
0.002 Follicular neoplasm In contrast, BRAF-mutated cases with diagnoses of atypia of undetermined signifi... BeFree 22887810 Detail
0.777 Adenomatous Polyposis Coli We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, ... BeFree 17696956 Detail
0.002 follicular adenoma A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. BeFree 12881714 Detail
0.006 Metastatic melanoma We carried out a retrospective analysis of efficacy and safety in four patients ... BeFree 24933606 Detail
0.124 Follicular thyroid carcinoma BRAF(K601E) mutation in a patient with a follicular thyroid carcinoma. BeFree 22136270 Detail
0.360 Noonan syndrome 7 NA CLINVAR Detail
0.135 colon carcinoma NA CLINVAR Detail
0.131 Non-small cell lung carcinoma NA CLINVAR Detail
0.325 Papillary thyroid carcinoma Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF(V600E)), this p... BeFree 22136270 Detail
Annotation

Annotations

DescrptionSourceLinks
Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants eleva... CIViC Evidence Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Carcinoma of colon ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Thyroid cancer, nonmedullary, 2 ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Non-small cell lung carcinoma ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Gastric adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Thyroid tumor ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Prostate adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Lung adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) AND Neoplasm ClinVar Detail
A BRAF K601E mutation was detected in a patient with splenic marginal zone lymphoma. DisGeNET Detail
A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
NA DisGeNET Detail
Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic melanoma. DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
In contrast, BRAF-mutated cases with diagnoses of atypia of undetermined significance/follicular les... DisGeNET Detail
We report a case with a very rare deletion mutation of BRAF (c.1799-1801delTGA, p.Val600_Lys601delin... DisGeNET Detail
A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. DisGeNET Detail
We carried out a retrospective analysis of efficacy and safety in four patients with BRAF K601E and ... DisGeNET Detail
BRAF(K601E) mutation in a patient with a follicular thyroid carcinoma. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Unlike the most common BRAF mutation seen in PTC carcinoma (BRAF(V600E)), this patient's mutation wa... 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
rs121913364 dbSNP
Genome
hg19
Position
chr7:140,453,134-140,453,134
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
K601E
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/584
Genome browser