chr7:140453154:T>A Detail (hg19) (BRAF)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1901A>T NP_004324.2:p.Asp634Val
Ensemble ENST00000288602.11:c.1901A>T ENST00000288602.11:p.Asp634Val
ENST00000496384.7:c.1781A>T ENST00000496384.7:p.Asp594Val
Summary

MGeND

Clinical significance
Variant entry
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 COSM466 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Pathogenic 2020-05-18 reviewed by expert panel RASopathy germline Detail
Uncertain significance no assertion criteria provided Cardio-facio-cutaneous syndrome unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
skin melanoma Trametinib,Sorafenib E Predictive Supports Sensitivity/Response Somatic 3 20141835 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
Preclinical study in melanoma cell lines. Inactivity of BRAF as mediated by specific mutation (D594A... CIViC Evidence Detail
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) AND Neoplasm of the large intestine ClinVar Detail
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) AND RASopathy ClinVar Detail
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) AND Cardio-facio-cutaneous syndrome 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
hg19
Position
chr7:140,453,154-140,453,154
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
D594V
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/580
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