chr22:21772875:C>T Detail (hg38) (MAPK1)

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

Genome

Assembly	Position
hg19	chr22:22,127,164-22,127,164 View the variant detail on this assembly version.
hg38	chr22:21,772,875-21,772,875

HGVS

MAPK1

Type	Transcript	Protein
RefSeq	NM_002745.4:c.964G>A	NP_002736.3:p.Glu322Lys
	NM_138957.3:c.964G>A	NP_620407.1:p.Glu322Lys
Ensemble	ENST00000215832.11:c.964G>A	ENST00000215832.11:p.Glu322Lys
	ENST00000398822.7:c.964G>A	ENST00000398822.7:p.Glu322Lys
	ENST00000544786.1:c.832G>A	ENST00000544786.1:p.Glu278Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

Links

MAPK1

Type	Database	ID	Link
Gene	MIM	176948	OMIM
	HGNC	6871	HGNC
	Ensembl	ENSG00000100030	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM461148	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	Neoplasm of uterine cervix	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided		somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
head and neck squamous cell carcinoma	Erlotinib	C	Predictive	Supports	Sensitivity/Response	Somatic	4	26181029	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Case report of a patient with stage IVA HNSCC with near-complete histologic response after 13 days o...	CIViC Evidence	Detail
NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Neoplasm of uterine cervix	ClinVar	Detail
NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Squamous cell carcinoma of the head and neck	ClinVar	Detail
NM_002745.5(MAPK1):c.964G>A (p.Glu322Lys) AND Transitional cell carcinoma of the bladder	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: rs1057519911 dbSNP
Genome: hg38
Position: chr22:21,772,875-21,772,875
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): E322K
Transcript 1 (CIViC Variant): ENST00000215832.6
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/320

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