chr7:140753335:CA>AT Detail (hg38) (BRAF)

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Information

Genome

Assembly	Position
hg19	chr7:140,453,135-140,453,136 View the variant detail on this assembly version.
hg38	chr7:140,753,335-140,753,336

Summary

[No Data.]

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	COSM477	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
melanoma	Vemurafenib	D	Predictive	Supports	Sensitivity/Response	Somatic		18287029	Detail
melanoma	Vemurafenib	D	Predictive	Supports	Sensitivity/Response	Somatic		20551065	Detail
melanoma	BRAF Inhibitor	B	Predictive	Supports	Sensitivity/Response	Somatic	3	31580757	Detail
melanoma	BRAF Inhibitor,Mitogen-Activated Protein Kinase Kinase Inhibitor	B	Predictive	Supports	Sensitivity/Response	Somatic	3	31580757	Detail
melanoma	Dabrafenib	B	Predictive	Supports	Sensitivity/Response	Somatic	5	23463675	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.431	melanoma	Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutatio...	BeFree	23317446	Detail
0.005	melanoma	Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V...	BeFree	23624923	Detail
0.431	melanoma	Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V...	BeFree	23624923	Detail
0.431	melanoma	In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in...	BeFree	15948220	Detail
<0.001	melanoma	Preclinical studies revealed that GLV-1h68 combined with radiotherapy significan...	BeFree	23624923	Detail

Annotation

Descrption	Source	Links
In an in vitro study, WM2664, a BRAF V600D expressing cell line, demonstrated improved sensitivity t...	CIViC Evidence	Detail
In an in vitro study, the WM2664 and WM239A cell lines expressing BRAF V600D were associated with in...	CIViC Evidence	Detail
In a retrospective study from 20 institutes in 4 countries, the efficacy of BRAF inhibitor and/or ME...	CIViC Evidence	Detail
In a retrospective study from 20 institutes in 4 countries, the efficacy of BRAF inhibitor and/or ME...	CIViC Evidence	Detail
Patients with other BRAF V600 mutations also respond well to the V600E drug dabrafenib.	CIViC Evidence	Detail
NM_004333.6(BRAF):c.1799_1800delinsAT (p.Val600Asp) AND Melanoma	ClinVar	Detail
Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations.	DisGeNET	Detail
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant m...	DisGeNET	Detail
Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant m...	DisGeNET	Detail
In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of whi...	DisGeNET	Detail
Preclinical studies revealed that GLV-1h68 combined with radiotherapy significantly increased cytoto...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121913377 dbSNP
Genome: hg38
Position: chr7:140,753,335-140,753,336
Variant Type: snv
Reference Allele: CA
Alternative Allele: AT
Variant (CIViC) (CIViC Variant): V600D
Transcript 1 (CIViC Variant): ENST00000288602.6
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/11
Summary (CIViC Variant): Patients harboring mutations in valine 600 residue of BRAF have been shown to be sensitive to dabrafenib. For more information on the V600 locus, see the V600E entry.

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