chr7:140453137:C>A 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	chr7:140,453,137-140,453,137
hg38	chr7:140,753,337-140,753,337 View the variant detail on this assembly version.

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1918G>T	NP_004324.2:p.Val640Leu
Ensemble	ENST00000288602.11:c.1918G>T	ENST00000288602.11:p.Val640Leu
	ENST00000496384.7:c.1798G>T	ENST00000496384.7:p.Val600Leu
	ENST00000644969.2:c.1918G>T	ENST00000644969.2:p.Val640Leu
	ENST00000646891.2:c.1798G>T	ENST00000646891.2:p.Val600Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
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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	COSM33808	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2011-10-04	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail
Pathogenic	2022-11-01	no assertion criteria provided	Myoepithelial tumor	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.006	Metastatic melanoma	We present a 54-year-old man with metastatic melanoma harbouring a rare BRAF V60...	BeFree	25382067	Detail
0.049	Metastatic melanoma	Response to MAPK pathway inhibitors in BRAF V600M-mutated metastatic melanoma.	BeFree	25382067	Detail
0.017	Cutaneous Melanoma	The classical V600E BRAF mutation was not found; instead a novel V600L was obser...	BeFree	21750866	Detail
0.002	Malignant melanoma, metastatic	Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600...	BeFree	23031422	Detail
0.131	Non-small cell lung carcinoma	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) AND Melanoma	ClinVar	Detail
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu) AND Myoepithelial tumor	ClinVar	Detail
We present a 54-year-old man with metastatic melanoma harbouring a rare BRAF V600M mutation, who exp...	DisGeNET	Detail
Response to MAPK pathway inhibitors in BRAF V600M-mutated metastatic melanoma.	DisGeNET	Detail
The classical V600E BRAF mutation was not found; instead a novel V600L was observed suggesting that ...	DisGeNET	Detail
Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic...	DisGeNET	Detail
NA	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: rs121913378 dbSNP
Genome: hg19
Position: chr7:140,453,137-140,453,137
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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