chr12:25378561:G>A Detail (hg19) (KRAS)

Information

Genome

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

HGVS

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 ENST00000311936.8:c.437C>T ENST00000311936.8:p.Ala146Val
Summary

MGeND

Clinical significance not provided
Variant entry 22
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided body of stomach not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided duodenum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided descending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided pyloric antrum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided sigmoid 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 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 body of stomach not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum 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 malignant neoplasm of rectum 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 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

DescrptionSourceLinks
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
hg19
Position
chr12:25,378,561-25,378,561
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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