chr7:140453149:C>G Detail (hg19) (BRAF)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:140,453,149-140,453,149
hg38	chr7:140,753,349-140,753,349 View the variant detail on this assembly version.

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1906G>C	NP_004324.2:p.Gly636Arg
Ensemble	ENST00000496384.7:c.1786G>C	ENST00000496384.7:p.Gly596Arg
	ENST00000288602.11:c.1906G>C	ENST00000288602.11:p.Gly636Arg
	ENST00000644969.2:c.1906G>C	ENST00000644969.2:p.Gly636Arg
	ENST00000646891.2:c.1786G>C	ENST00000646891.2:p.Gly596Arg

Summary

MGeND

Clinical significance	not provided
Variant entry	7
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

BRAF

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	COSM469	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		fundus of stomach	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		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	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	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Pathogenic	2015-07-14	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
cancer	Vemurafenib	C	Predictive	Does Not Support	Sensitivity/Response	Somatic	2	29320312	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment...	CIViC Evidence	Detail
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) AND Lung adenocarcinoma	ClinVar	Detail
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) AND Melanoma	ClinVar	Detail
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) AND Multiple myeloma	ClinVar	Detail
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) AND Neoplasm of the large intestine	ClinVar	Detail
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) AND Transitional cell carcinoma of the bladder	ClinVar	Detail
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) AND Glioblastoma	ClinVar	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: rs121913361 dbSNP
Genome: hg19
Position: chr7:140,453,149-140,453,149
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Variant (CIViC) (CIViC Variant): G596R
Transcript 1 (CIViC Variant): ENST00000288602.6
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1627

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