chr15:66436824:C>T Detail (hg38) (MAP2K1)

Information

Genome

Assembly Position
hg19 chr15:66,729,162-66,729,162 View the variant detail on this assembly version.
hg38 chr15:66,436,824-66,436,824

HGVS

Type Transcript Protein
RefSeq NM_002755.3:c.370C>T NP_002746.1:p.Pro124Ser
Ensemble ENST00000307102.10:c.370C>T ENST00000307102.10:p.Pro124Ser
ENST00000685172.1:c.370C>T ENST00000685172.1:p.Pro124Ser
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
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 COSM235614 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided melanoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus 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 Neoplasm of the large intestine somatic Detail
Pathogenic 2020-10-14 criteria provided, single submitter not provided germline Detail
Uncertain significance no assertion criteria provided Noonan syndrome unknown Detail
Likely pathogenic 2019-05-28 criteria provided, single submitter cardiofaciocutaneous syndrome 3 unknown Detail
Pathogenic 2020-07-02 reviewed by expert panel RASopathy germline 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 P124S mutation conferred an approximately 5-fold increased resistance t... CIViC Evidence Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Melanoma ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Malignant melanoma of skin ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND not provided ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Noonan syndrome ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND Cardiofaciocutaneous syndrome 3 ClinVar Detail
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) AND RASopathy 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
rs1057519732 dbSNP
Genome
hg38
Position
chr15:66,436,824-66,436,824
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
P124S
Transcript 1 (CIViC Variant)
ENST00000307102.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/82
Summary (CIViC Variant)
MAP2K1 P124S is a recurrent mutation in melanoma, and is seen in bladder and colon cancer to a lesser degree. The P124S mutation has been shown to contribute to AZD6244 resistance in melanoma cell lines, but considerably less so than its Q56P counterpart.
Genome browser