chr15:66727451:A>C Detail (hg19) (MAP2K1)

Information

Genome

Assembly Position
hg19 chr15:66,727,451-66,727,451
hg38 chr15:66,435,113-66,435,113 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002755.3:c.167A>C NP_002746.1:p.Gln56Pro
Ensemble ENST00000307102.10:c.167A>C ENST00000307102.10:p.Gln56Pro
ENST00000689951.1:c.167A>C ENST00000689951.1:p.Gln56Pro
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 7
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 COSM1235481 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided ascending colon not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided colon, unspecified not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
Pathogenic Colorectal somatic MGS000038
(TMGS000091)
Manabu Muto
Ichiro Kinoshita
Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided ascending colon not provided MGS000042
(TMGS000093)
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 bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-05-24 criteria provided, single submitter Non-small cell lung carcinoma germline 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 2021-07-02 criteria provided, single submitter not provided somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
melanoma Selumetinib D Predictive Supports Resistance Somatic 3 19915144 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A375 cells expressing MAP2K1 Q56P mutation conferred an approximately 100-fold increased resistance ... CIViC Evidence Detail
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Non-small cell lung carcinoma ClinVar Detail
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Melanoma ClinVar Detail
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) AND Melorheostosis ClinVar Detail
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro) 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
rs1057519729 dbSNP
Genome
hg19
Position
chr15:66,727,451-66,727,451
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
Q56P
Transcript 1 (CIViC Variant)
ENST00000307102.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/83
Summary (CIViC Variant)
MAP2K1 Q56P is a recurrent mutation in melanoma and gastric cancer. This mutation has been shown to confer considerable resistance to AZD6244 treatment of melanoma cell lines.
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