chr7:140453145:A>T Detail (hg19) (BRAF)

Information

Genome

Assembly Position
hg19 chr7:140,453,145-140,453,145
hg38 chr7:140,753,345-140,753,345 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004333.4:c.1910T>A NP_004324.2:p.Leu637Gln
Ensemble ENST00000496384.7:c.1790T>A ENST00000496384.7:p.Leu597Gln
ENST00000288602.11:c.1910T>A ENST00000288602.11:p.Leu637Gln
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 COSM1125 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ampulla of vater not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma 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
skin melanoma Trametinib,Vemurafenib D Predictive Supports Sensitivity/Response Somatic 2 22798288 Detail
skin melanoma Trametinib C Predictive Supports Sensitivity/Response Somatic 3 24933606 Detail
cancer Vemurafenib C Predictive Does Not Support Sensitivity/Response Somatic 2 29320312 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
0.049 Metastatic melanoma Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic mela... BeFree 24933606 Detail
0.006 Metastatic melanoma We carried out a retrospective analysis of efficacy and safety in four patients ... BeFree 24933606 Detail
Annotation

Annotations

DescrptionSourceLinks
Preclinical study in 293H cell line. Ectopic expression of V600E, L597R/Q/S, and K601E mutants eleva... CIViC Evidence Detail
Case study report including one patient with L597Q mutation-positive metastatic melanoma (M1b diseas... CIViC Evidence Detail
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment... CIViC Evidence Detail
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) AND Malignant melanoma of skin ClinVar Detail
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) AND Melanoma ClinVar Detail
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) AND Prostate adenocarcinoma ClinVar Detail
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) AND Multiple myeloma ClinVar Detail
Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumo... DisGeNET Detail
NA DisGeNET Detail
Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic melanoma. DisGeNET Detail
We carried out a retrospective analysis of efficacy and safety in four patients with BRAF K601E and ... 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
rs121913366 dbSNP
Genome
hg19
Position
chr7:140,453,145-140,453,145
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
L597Q
Transcript 1 (CIViC Variant)
ENST00000288602.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/583
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