chr7:140477813:T>C 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	chr7:140,477,813-140,477,813
hg38	chr7:140,778,013-140,778,013 View the variant detail on this assembly version.

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1615A>G	NP_004324.2:p.Lys539Glu
Ensemble	ENST00000288602.11:c.1615A>G	ENST00000288602.11:p.Lys539Glu
	ENST00000496384.7:c.1495A>G	ENST00000496384.7:p.Lys499Glu
	ENST00000644969.2:c.1615A>G	ENST00000644969.2:p.Lys539Glu
	ENST00000646891.2:c.1495A>G	ENST00000646891.2:p.Lys499Glu

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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	COSM6966704	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		cardiofaciocutaneous syndrome	germline	MGS000019 (TMGS000036)	Yoichi Matsubara	National Center for Child Health and Development
Pathogenic	2017/03/30	cardiofaciocutaneous syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-05-22	criteria provided, multiple submitters, no conflicts	cardiofaciocutaneous syndrome 1	de novo germline	Detail
Pathogenic Likely pathogenic	2018-08-09	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Likely pathogenic	2018-04-09	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2016-12-12	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.567	Cardio-facio-cutaneous syndrome	NA	CLINVAR		Detail
0.567	Cardio-facio-cutaneous syndrome	In one patient with NS, we also identified a mutation, BRAF K499E, that has prev...	BeFree	18456719	Detail

Annotation

Annotations

Descrption	Source	Links
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND Cardiofaciocutaneous syndrome 1	ClinVar	Detail
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND not provided	ClinVar	Detail
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND RASopathy	ClinVar	Detail
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
NA	DisGeNET	Detail
In one patient with NS, we also identified a mutation, BRAF K499E, that has previously been reported...	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: rs180177037 dbSNP
Genome: hg19
Position: chr7:140,477,813-140,477,813
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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