chr15:66727455:G>T Detail (hg19) (MAP2K1)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_002755.3:c.171G>T NP_002746.1:p.Lys57Asn
Ensemble ENST00000686347.1:c.171G>T ENST00000686347.1:p.Lys57Asn
ENST00000693150.1:c.105G>T ENST00000693150.1:p.Lys35Asn
Summary

MGeND

Clinical significance not provided
Variant entry 18
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided descending colon 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 rectosigmoid junction 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
not provided duodenum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided small intestine, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
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
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

DescrptionSourceLinks
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
hg19
Position
chr15:66,727,455-66,727,455
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