chr12:25245351:C>T Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,285-25,398,285 View the variant detail on this assembly version.
hg38 chr12:25,245,351-25,245,351

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.34G>A NP_004976.2:p.Gly12Ser
NM_033360.3:c.34G>A NP_203524.1:p.Gly12Ser
Ensemble ENST00000256078.10:c.34G>A ENST00000256078.10:p.Gly12Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 4
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 190070 OMIM
HGNC 6407 HGNC
Ensembl ENSG00000133703 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM1152506 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/03/08 colon cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/03/08 Dysplasia somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic cardiofaciocutaneous syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-06-15 no assertion criteria provided Gastric cancer somatic Detail
Pathogenic 2011-09-02 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
not provided no assertion provided Neoplasm of ovary somatic Detail
Pathogenic 2007-06-15 no assertion criteria provided juvenile myelomonocytic leukemia 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 2023-02-26 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2021-12-11 criteria provided, single submitter RASopathy germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Panitumumab C Predictive Supports Resistance Somatic 18316791 Detail
lung cancer Gefitinib B Predictive Supports Resistance Somatic 2 17409929 Detail
multiple myeloma Melphalan B Predictive Supports Resistance Somatic 19284554 Detail
multiple myeloma Melphalan D Predictive Supports Resistance Somatic 2 11050000 Detail
multiple myeloma Melphalan D Predictive Supports Resistance Somatic 2 12483530 Detail
multiple myeloma Melphalan D Predictive Supports Resistance Somatic 2 16497971 Detail
colorectal cancer Regorafenib D Predictive Supports Resistance Somatic 26161928 Detail
colorectal cancer Cetuximab,Panitumumab C Predictive Supports Resistance Somatic 2 19223544 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.385 Non-small cell lung carcinoma Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were i... BeFree 24200637 Detail
0.321 Non-small cell lung carcinoma Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were i... BeFree 24200637 Detail
0.256 Stomach Neoplasms NA CLINVAR Detail
0.256 ovarian neoplasm NA CLINVAR Detail
0.125 Malignant neoplasm of urinary bladder NA CLINVAR Detail
0.113 Malignant neoplasm of lung Gene-expression profiles in lung cancer cell lines and surgically resected lung ... BeFree 25170638 Detail
0.321 Non-small cell lung carcinoma The dominant role of G12C over other KRAS mutation types in the negative predict... BeFree 23313110 Detail
0.146 Adenocarcinoma of lung (disorder) Presence of the KRAS G12C mutation had 96% specificity and positive predictive v... BeFree 23887294 Detail
0.229 Carcinoma of lung Gene-expression profiles in lung cancer cell lines and surgically resected lung ... BeFree 25170638 Detail
0.146 Adenocarcinoma of lung (disorder) KRAS-G12C mutation is associated with poor outcome in surgically resected lung a... BeFree 25170638 Detail
0.229 Carcinoma of lung NA CLINVAR Detail
<0.001 neurilemmoma A KRAS G12S mutation was also evident in one sporadic schwannoma. BeFree 23190154 Detail
0.121 Squamous cell carcinoma of lung NA CLINVAR Detail
0.163 Neoplasm Metastasis Interestingly, during anti-EGFR treatment, it came to the selection of cells wit... BeFree 23606169 Detail
0.014 polyps There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys... BeFree 24470512 Detail
<0.001 Follicular thyroid carcinoma Follicular carcinoma presenting as autonomous functioning thyroid nodule and con... BeFree 16756473 Detail
<0.001 Erdheim-Chester disease There was 100% concordance between tissue and urinary cfDNA genotype in treatmen... BeFree 25324352 Detail
0.003 Thyroid Nodule Follicular carcinoma presenting as autonomous functioning thyroid nodule and con... BeFree 16756473 Detail
0.385 Non-small cell lung carcinoma The dominant role of G12C over other KRAS mutation types in the negative predict... BeFree 23313110 Detail
0.321 Non-small cell lung carcinoma We selected NSCLC cell lines--A549 (KRAS G12S), NCI-H3255 (EGFR L858R), NCI-H312... BeFree 22617245 Detail
0.455 Costello syndrome (disorder) We have observed unusual transverse distal phalangeal creases in two patients, o... BeFree 17324647 Detail
0.122 Costello syndrome (disorder) We have observed unusual transverse distal phalangeal creases in two patients, o... BeFree 17324647 Detail
0.265 Noonan syndrome We have observed unusual transverse distal phalangeal creases in two patients, o... BeFree 17324647 Detail
0.121 Noonan syndrome We have observed unusual transverse distal phalangeal creases in two patients, o... BeFree 17324647 Detail
0.121 Cardio-facio-cutaneous syndrome We have observed unusual transverse distal phalangeal creases in two patients, o... BeFree 17324647 Detail
0.130 endometrial carcinoma NA CLINVAR Detail
0.149 Carcinogenesis This system allowed us to rapidly compare the ability of 12 different KRAS mutat... BeFree 25065594 Detail
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
0.448 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.032 Malignant neoplasm of thyroid The effect of activating somatic mutations in the KRAS and BRAF genes on the res... BeFree 22442268 Detail
0.002 Malignant neoplasm of thyroid The effect of activating somatic mutations in the KRAS and BRAF genes on the res... BeFree 22442268 Detail
0.060 Thyroid carcinoma The effect of activating somatic mutations in the KRAS and BRAF genes on the res... BeFree 22442268 Detail
0.002 Thyroid carcinoma The effect of activating somatic mutations in the KRAS and BRAF genes on the res... BeFree 22442268 Detail
Annotation

Annotations

DescrptionSourceLinks
In a retrospective study of 427 metastatic colorectal patients, KRAS mutations were observed in 43% ... CIViC Evidence Detail
In recurrent lung cancer patients treated with the epidermal growth factor receptor tyrosine kinase ... CIViC Evidence Detail
In a study of patients receiving melphalan-based therapy, those with KRAS codon 12 mutations were le... CIViC Evidence Detail
In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less s... CIViC Evidence Detail
In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less s... CIViC Evidence Detail
In in vitro experiments, myeloma cell lines expressing activating NRAS and KRAS mutations are less s... CIViC Evidence Detail
In an in vitro study, a SW48 cell line expressing KRAS G12S mutation demonstrated decreased sensitiv... CIViC Evidence Detail
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND Gastric cancer ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND Neoplasm of ovary ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND Thyroid tumor ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) AND RASopathy ClinVar Detail
Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSC... DisGeNET Detail
Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSC... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Gene-expression profiles in lung cancer cell lines and surgically resected lung AC revealed that KRA... DisGeNET Detail
The dominant role of G12C over other KRAS mutation types in the negative prediction of efficacy of e... DisGeNET Detail
Presence of the KRAS G12C mutation had 96% specificity and positive predictive value for lung adenoc... DisGeNET Detail
Gene-expression profiles in lung cancer cell lines and surgically resected lung AC revealed that KRA... DisGeNET Detail
KRAS-G12C mutation is associated with poor outcome in surgically resected lung adenocarcinoma. DisGeNET Detail
NA DisGeNET Detail
A KRAS G12S mutation was also evident in one sporadic schwannoma. DisGeNET Detail
NA DisGeNET Detail
Interestingly, during anti-EGFR treatment, it came to the selection of cells with KRAS G12C mutation... DisGeNET Detail
There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys somatic mutation in... DisGeNET Detail
Follicular carcinoma presenting as autonomous functioning thyroid nodule and containing an activatin... DisGeNET Detail
There was 100% concordance between tissue and urinary cfDNA genotype in treatment-naïve samples. cfD... DisGeNET Detail
Follicular carcinoma presenting as autonomous functioning thyroid nodule and containing an activatin... DisGeNET Detail
The dominant role of G12C over other KRAS mutation types in the negative prediction of efficacy of e... DisGeNET Detail
We selected NSCLC cell lines--A549 (KRAS G12S), NCI-H3255 (EGFR L858R), NCI-H3122 (EML4-ALK E13;A20)... DisGeNET Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... DisGeNET Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... DisGeNET Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... DisGeNET Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... DisGeNET Detail
We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syn... DisGeNET Detail
NA DisGeNET Detail
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The effect of activating somatic mutations in the KRAS and BRAF genes on the responsiveness to sunit... DisGeNET Detail
The effect of activating somatic mutations in the KRAS and BRAF genes on the responsiveness to sunit... DisGeNET Detail
The effect of activating somatic mutations in the KRAS and BRAF genes on the responsiveness to sunit... DisGeNET Detail
The effect of activating somatic mutations in the KRAS and BRAF genes on the responsiveness to sunit... 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
rs121913530 dbSNP
Genome
hg38
Position
chr12:25,245,351-25,245,351
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G12S
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/913
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