chr12:25378562:C>T Detail (hg19) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,378,562-25,378,562
hg38 chr12:25,225,628-25,225,628 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.436G>A NP_004976.2:p.Ala146Thr
NM_033360.3:c.436G>A NP_203524.1:p.Ala146Thr
Ensemble ENST00000256078.10:c.436G>A ENST00000256078.10:p.Ala146Thr
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 58
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 COSM1165198 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided stomach, unspecified not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided caecum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided ascending colon not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided transverse 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 malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided extrahepatic bile duct not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
Uncertain significance Malignant tumor of unknown origin (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto University
Uncertain significance Carcinoma of colon (disorder) unknown MGS000023
(TMGS000082) 		Manabu Muto Kyoto University
not provided colorectal cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
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 transverse 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 other somatic MGS000039
(TMGS000092) 		Hitoshi Nakagama National Cancer Center Japan 29659903
not provided pyloric antrum 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 transverse colon 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 colon, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectosigmoid junction 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 extrahepatic bile duct not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-01-01 criteria provided, conflicting interpretations not provided germline Detail
Pathogenic 2015-07-14 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
Likely pathogenic 2021-12-16 criteria provided, single submitter RASopathy germline Detail
Uncertain significance 2021-10-01 criteria provided, single submitter Classic Hodgkin lymphoma somatic Detail
Pathogenic 2024-01-30 criteria provided, single submitter cardiofaciocutaneous syndrome 2 germline 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
colorectal cancer Cetuximab D Predictive Supports Resistance Somatic 3 20570890 Detail
colorectal cancer FOLFOX-4 Regimen,Cetuximab B Predictive Supports Resistance Somatic 3 25666295 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.149 Carcinogenesis This system allowed us to rapidly compare the ability of 12 different KRAS mutat... BeFree 25065594 Detail
Annotation

Annotations

DescrptionSourceLinks
In 28 out of 40 (70%) metastatic colorectal cancer tumors implanted into mice, the therapeutic combi... CIViC Evidence Detail
Preclinical data supporting resistance of Exon 4 mutations, in particular A146T, to cetuximab and se... CIViC Evidence Detail
In a retrospective study of 148 treatment naive metastatic colorectal cancer patients, patients with... CIViC Evidence Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND OCULOECTODERMAL SYNDROME, SOMATIC ClinVar Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Encephalocraniocutaneous lipomatosis ClinVar Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Classic Hodgkin lymphoma ClinVar Detail
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) AND Cardiofaciocutaneous syndrome 2 ClinVar Detail
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... DisGeNET 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
rs121913527 dbSNP
Genome
hg19
Position
chr12:25,378,562-25,378,562
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
A146T
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/906
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