chr15:66435117:G>T Detail (hg38) (MAP2K1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr15:66,727,455-66,727,455 View the variant detail on this assembly version.
hg38	chr15:66,435,117-66,435,117

HGVS

MAP2K1

Type	Transcript	Protein
RefSeq	NM_002755.3:c.171G>T	NP_002746.1:p.Lys57Asn
Ensemble	ENST00000307102.10:c.171G>T	ENST00000307102.10:p.Lys57Asn
	ENST00000685172.1:c.171G>T	ENST00000685172.1:p.Lys57Asn
	ENST00000685763.1:c.171G>T	ENST00000685763.1:p.Lys57Asn
	ENST00000686347.1:c.171G>T	ENST00000686347.1:p.Lys57Asn
	ENST00000689951.1:c.171G>T	ENST00000689951.1:p.Lys57Asn
	ENST00000691576.1:c.171G>T	ENST00000691576.1:p.Lys57Asn
	ENST00000691937.1:c.171G>T	ENST00000691937.1:p.Lys57Asn
	ENST00000692683.1:c.105G>T	ENST00000692683.1:p.Lys35Asn
	ENST00000693150.1:c.105G>T	ENST00000693150.1:p.Lys35Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM1235478	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Cardio-facio-cutaneous syndrome	germline	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	lung adenocarcinoma	somatic	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	melanoma	somatic	Detail
Pathogenic	2020-06-23	no assertion criteria provided	melorheostosis	somatic	Detail
Pathogenic	2021-04-26	criteria provided, single submitter	not provided	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung adenocarcinoma		C	Diagnostic	Supports	Positive	Somatic	3	25351745	Detail
lung adenocarcinoma	Selumetinib	D	Predictive	Supports	Sensitivity/Response	Somatic	2	18632602	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
This report identified 36 MEK1-mutated cases among 6,024 Lung adecarcinomas. The majority of patient...	CIViC Evidence	Detail
Mutational profiling of a large cohort of lung adenocarcinomas identified in 2 of 207 primary lung ...	CIViC Evidence	Detail
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Cardio-facio-cutaneous syndrome	ClinVar	Detail
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Lung adenocarcinoma	ClinVar	Detail
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Melanoma	ClinVar	Detail
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND Melorheostosis	ClinVar	Detail
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn) AND not provided	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: rs869025608 dbSNP
Genome: hg38
Position: chr15:66,435,117-66,435,117
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): K57N
Transcript 1 (CIViC Variant): ENST00000307102.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1272

Genome browser