chr12:25225627:G>A Detail (hg38) (KRAS)

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

Genome

Assembly	Position
hg19	chr12:25,378,561-25,378,561 View the variant detail on this assembly version.
hg38	chr12:25,225,627-25,225,627

HGVS

KRAS

Type	Transcript	Protein
RefSeq	NM_004985.4:c.437C>T	NP_004976.2:p.Ala146Val
	NM_033360.3:c.437C>T	NP_203524.1:p.Ala146Val
Ensemble	ENST00000256078.10:c.437C>T	ENST00000256078.10:p.Ala146Val
	ENST00000311936.8:c.437C>T	ENST00000311936.8:p.Ala146Val
	ENST00000557334.6:c.112-15716C>T
	ENST00000685328.1:c.437C>T	ENST00000685328.1:p.Ala146Val
	ENST00000688940.1:c.437C>T	ENST00000688940.1:p.Ala146Val
	ENST00000692768.1:c.239C>T	ENST00000692768.1:p.Ala80Val
	ENST00000693229.1:c.362C>T	ENST00000693229.1:p.Ala121Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

KRAS

Type	Database	ID	Link
Gene	MIM	190070	OMIM
	HGNC	6407	HGNC
	Ensembl	ENSG00000133703	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1360827	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided	2016-03-10	no assertion provided	Non-small cell lung carcinoma	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Thyroid tumor	somatic	Detail
Pathogenic	2014-10-02	no assertion criteria provided	Neoplasm of the large intestine	somatic	Detail
Pathogenic	2022-03-09	no assertion criteria provided	OCULOECTODERMAL SYNDROME, SOMATIC	somatic	Detail
not provided		no assertion provided	Encephalocraniocutaneous lipomatosis	somatic	Detail
Pathogenic	2022-07-25	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic		no assertion criteria provided	Malignant tumor of urinary bladder	somatic	Detail
Uncertain significance	2023-11-14	criteria provided, single submitter	not provided	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Selumetinib,Dactolisib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	22392911	Detail
lung non-small cell carcinoma	Abemaciclib	C	Predictive	Supports	Sensitivity/Response	Somatic	2	24836576	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring NRAS, KRAS, BRAF or PIK3CA mutat...	CIViC Evidence	Detail
Case report of a patient with metastatic lung adenocarcinoma. Whole exome sequencing of the metastat...	CIViC Evidence	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND Thyroid tumor	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND Neoplasm of the large intestine	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND OCULOECTODERMAL SYNDROME, SOMATIC	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND Encephalocraniocutaneous lipomatosis	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND RASopathy	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) AND Malignant tumor of urinary bladder	ClinVar	Detail
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) 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: rs1057519725 dbSNP
Genome: hg38
Position: chr12:25,225,627-25,225,627
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): A146V
Transcript 1 (CIViC Variant): ENST00000256078.4
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/322

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