chr7:140453193: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	chr7:140,453,193-140,453,193
hg38	chr7:140,753,393-140,753,393 View the variant detail on this assembly version.

HGVS

BRAF

Type	Transcript	Protein
RefSeq	NM_004333.4:c.1862A>G	NP_004324.2:p.Asn621Ser
Ensemble	ENST00000288602.11:c.1862A>G	ENST00000288602.11:p.Asn621Ser
	ENST00000496384.7:c.1742A>G	ENST00000496384.7:p.Asn581Ser
	ENST00000644969.2:c.1862A>G	ENST00000644969.2:p.Asn621Ser
	ENST00000646891.2:c.1742A>G	ENST00000646891.2:p.Asn581Ser

Summary

MGeND

Clinical significance	not provided
Variant entry	10
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM462	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		descending colon	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		malignant neoplasm of rectum	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		head of pancreas	not provided	MGS000040 (TMGS000095)	Hitoshi Nakagama	National Cancer Center Japan
not provided		colon, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan
not provided		malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	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	2013-07-19	criteria provided, single submitter	Non-small cell lung carcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	melanoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Malignant melanoma of skin	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	ovarian serous cystadenocarcinoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	chronic myelogenous leukemia, BCR-ABL1 positive	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Papillary renal cell carcinoma, sporadic	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

Score	Disease name	Description	Source	Pubmed	Links
0.131	Non-small cell lung carcinoma	NA	CLINVAR		Detail

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.1742A>G (p.Asn581Ser) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Neoplasm of the large intestine	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Melanoma	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Malignant melanoma of skin	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Lung adenocarcinoma	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Ovarian serous cystadenocarcinoma	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Multiple myeloma	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Chronic myelogenous leukemia, BCR-ABL1 positive	ClinVar	Detail
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser) AND Papillary renal cell carcinoma, sporadic	ClinVar	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: rs121913370 dbSNP
Genome: hg19
Position: chr7:140,453,193-140,453,193
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Variant (CIViC) (CIViC Variant): N581S
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1186

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