chr15:66729154:G>C Detail (hg19) (MAP2K1)

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

Genome

Assembly	Position
hg19	chr15:66,729,154-66,729,154
hg38	chr15:66,436,816-66,436,816 View the variant detail on this assembly version.

HGVS

MAP2K1

Type	Transcript	Protein
RefSeq	NM_002755.3:c.362G>C	NP_002746.1:p.Cys121Ser
Ensemble	ENST00000685172.1:c.362G>C	ENST00000685172.1:p.Cys121Ser
	ENST00000692683.1:c.296G>C	ENST00000692683.1:p.Cys99Ser
	ENST00000691576.1:c.362G>C	ENST00000691576.1:p.Cys121Ser
	ENST00000686347.1:c.362G>C	ENST00000686347.1:p.Cys121Ser
	ENST00000689951.1:c.362G>C	ENST00000689951.1:p.Cys121Ser
	ENST00000691937.1:c.362G>C	ENST00000691937.1:p.Cys121Ser
	ENST00000307102.10:c.362G>C	ENST00000307102.10:p.Cys121Ser
	ENST00000693150.1:c.296G>C	ENST00000693150.1:p.Cys99Ser
	ENST00000685763.1:c.291+1579G>C

Summary

MGeND

Clinical significance	not provided
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

MAP2K1

Type	Database	ID	Link
Gene	MIM	176872	OMIM
	HGNC	6840	HGNC
	Ensembl	ENSG00000169032	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1315829	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		ill-defined sites within the digestive system	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
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	melanoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
melanoma	Vemurafenib	C	Predictive	Supports	Resistance	Somatic	4	21383288	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
A patient with BRAF-mutant melanoma relapsed after treatment with PLX4032 (vemurafenib). The MAP2K1 ...	CIViC Evidence	Detail
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) AND Lung adenocarcinoma	ClinVar	Detail
NM_002755.4(MAP2K1):c.362G>C (p.Cys121Ser) AND Melanoma	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: rs1057519731 dbSNP
Genome: hg19
Position: chr15:66,729,154-66,729,154
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Variant (CIViC) (CIViC Variant): C121S
Transcript 1 (CIViC Variant): ENST00000307102.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/627

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