chr12:25245347:C>T Detail (hg38) (KRAS)

Information

Genome

Assembly Position
hg19 chr12:25,398,281-25,398,281 View the variant detail on this assembly version.
hg38 chr12:25,245,347-25,245,347

HGVS

Type Transcript Protein
RefSeq NM_004985.4:c.38G>A NP_004976.2:p.Gly13Asp
NM_033360.3:c.38G>A NP_203524.1:p.Gly13Asp
Ensemble ENST00000556131.2:c.38G>A ENST00000556131.2:p.Gly13Asp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 9
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 COSM1140132 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2018/04/26 colon cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
Pathogenic Autoimmune lymphoproliferative syndrome somatic MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-01 no assertion criteria provided breast adenocarcinoma somatic Detail
Pathogenic 2011-11-02 criteria provided, single submitter Non-small cell lung carcinoma somatic Detail
Pathogenic 2015-07-01 no assertion criteria provided juvenile myelomonocytic leukemia somatic Detail
Pathogenic 2015-07-01 no assertion criteria provided autoimmune lymphoproliferative syndrome type 4 somatic Detail
Pathogenic 2016-03-10 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Thyroid tumor somatic Detail
Likely pathogenic 2014-10-02 no assertion criteria provided acute myeloid leukemia somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic 2015-07-01 no assertion criteria provided OCULOECTODERMAL SYNDROME, SOMATIC somatic Detail
Pathogenic 2021-09-09 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic 2018-07-19 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic criteria provided, single submitter somatic Detail
Uncertain significance 2019-12-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
not provided no assertion provided Encephalocraniocutaneous lipomatosis somatic Detail
Pathogenic 2023-08-19 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2023-11-15 criteria provided, single submitter KRAS-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Cetuximab B Predictive Supports Resistance Somatic 3 26371285 Detail
colorectal cancer Cetuximab B Predictive Supports Resistance Somatic 4 26812186 Detail
colorectal cancer Cetuximab D Predictive Supports Sensitivity/Response Somatic 4 20978259 Detail
colorectal cancer Dactolisib,Selumetinib D Predictive Supports Sensitivity/Response Somatic 2 22392911 Detail
colorectal cancer Panitumumab C Predictive Supports Resistance Somatic 18316791 Detail
colorectal cancer Cetuximab B Predictive Supports Sensitivity/Response Somatic 4 20978259 Detail
colorectal cancer Cetuximab D Predictive Supports Resistance Somatic 22722830 Detail
colorectal cancer Cetuximab B Predictive Supports Resistance Somatic 25666295 Detail
colorectal cancer Cetuximab,Panitumumab C Predictive Does Not Support Resistance Somatic 2 19223544 Detail
colorectal cancer Panitumumab,Cetuximab C Predictive Supports Resistance Somatic 2 19223544 Detail
colorectal cancer Cetuximab B Predictive Does Not Support Resistance Somatic 2 26623049 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 thymoma One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
<0.001 thymic carcinoma One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
<0.001 thymoma One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
<0.001 Thymoma, type C One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, res... BeFree 19861435 Detail
0.082 colorectal carcinoma Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... BeFree 25367198 Detail
0.120 breast adenocarcinoma NA CLINVAR Detail
0.149 Carcinogenesis This system allowed us to rapidly compare the ability of 12 different KRAS mutat... BeFree 25065594 Detail
0.080 Colorectal cancer metastatic KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting ... BeFree 22972628 Detail
0.080 Colorectal cancer metastatic Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS ... BeFree 22441566 Detail
0.108 colorectal cancer KRAS MASI is a significant event in colorectal cancer, specifically associated w... BeFree 25609577 Detail
0.025 Malignant tumor of colon We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... BeFree 19492075 Detail
0.080 Colorectal cancer metastatic Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer ... BeFree 22537608 Detail
0.003 Malignant tumor of colon The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... BeFree 16448675 Detail
0.274 colorectal cancer Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... BeFree 25367198 Detail
0.082 colorectal carcinoma KRAS MASI is a significant event in colorectal cancer, specifically associated w... BeFree 25609577 Detail
0.007 colorectal cancer KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... BeFree 23209813 Detail
0.082 colorectal carcinoma We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... BeFree 25359494 Detail
0.160 colorectal cancer In this analysis, use of cetuximab was associated with longer overall and progre... BeFree 20978259 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
0.007 colorectal cancer KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... BeFree 23209813 Detail
0.001 colon carcinoma We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... BeFree 19492075 Detail
0.010 colorectal carcinoma KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... BeFree 23209813 Detail
0.010 colorectal carcinoma KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... BeFree 23209813 Detail
0.080 colorectal carcinoma KRAS MASI is a significant event in colorectal cancer, specifically associated w... BeFree 25609577 Detail
0.160 colorectal cancer We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral on... BeFree 25359494 Detail
<0.001 Malignant tumor of colon We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... BeFree 19492075 Detail
0.080 Colorectal cancer metastatic Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-r... BeFree 20978259 Detail
0.160 colorectal cancer KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... BeFree 23015072 Detail
0.080 Colorectal cancer metastatic Association of KRAS G13D tumor mutations with outcome in patients with metastati... BeFree 22734028 Detail
0.240 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER NA CLINVAR Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
<0.001 Malignant tumor of colon We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... BeFree 19492075 Detail
0.024 colon carcinoma We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... BeFree 19492075 Detail
0.010 colorectal carcinoma KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... BeFree 23209813 Detail
<0.001 colon carcinoma We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knockin... BeFree 19492075 Detail
0.082 colorectal carcinoma KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... BeFree 23015072 Detail
0.080 colorectal carcinoma KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... BeFree 23015072 Detail
0.082 colorectal carcinoma In this analysis, use of cetuximab was associated with longer overall and progre... BeFree 20978259 Detail
0.007 colorectal cancer KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by ... BeFree 23209813 Detail
0.080 Colorectal cancer metastatic Association KRAS G13D tumor mutated outcome in patients with chemotherapy refrac... BeFree 23537520 Detail
0.163 Neoplasm Metastasis Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D,... BeFree 19679400 Detail
<0.001 Sezary syndrome One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
0.003 Malignant tumor of colon The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... BeFree 16448675 Detail
0.160 colorectal cancer Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... BeFree 25367198 Detail
0.108 colorectal cancer KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody trea... BeFree 23015072 Detail
0.160 colorectal cancer KRAS MASI is a significant event in colorectal cancer, specifically associated w... BeFree 25609577 Detail
0.321 Non-small cell lung carcinoma NA CLINVAR Detail
0.448 juvenile myelomonocytic leukemia NA CLINVAR Detail
<0.001 mycosis fungoides One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... BeFree 21209378 Detail
0.006 Malignant tumor of colon The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers... BeFree 16448675 Detail
0.074 colorectal carcinoma Our finding that KRAS codon 13 mutations (in particular G13D) are associated wit... BeFree 25367198 Detail
Annotation

Annotations

DescrptionSourceLinks
12 patients with KRAS G13D mutant, metastatic colorectal cancer were treated with single agent cetux... CIViC Evidence Detail
Meta-analysis encompassing eight randomized controlled trials (n = 5967) for assessment of both over... CIViC Evidence Detail
Cells harboring KRAS G13D mutation were sensitive to cetuximab treatment in isogenic SW48 cells and ... CIViC Evidence Detail
In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring KRAS, NRAS, PIK3CA or BRAF mutat... CIViC Evidence Detail
In a retrospective study of 427 metastatic colorectal patients, KRAS mutations were observed in 43% ... CIViC Evidence Detail
KRAS G13D mutation is associated with better response to Cetuximab with longer progression-free and ... CIViC Evidence Detail
In an in vitro study, a Lim1215 colorectal cancer cell line endogenously expressing KRAS G13D mutati... CIViC Evidence Detail
In a retrospective study of 148 treatment naive metastatic colorectal cancer patients, patients with... CIViC Evidence Detail
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence Detail
In this study, a large cohort of metastatic colorectal cancer patients were treated with anti-epider... CIViC Evidence Detail
This is a retrospective analysis of 98 patients with metastatic colorectal cancer and KRAS mutations... CIViC Evidence Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Breast adenocarcinoma ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Non-small cell lung carcinoma ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Autoimmune lymphoproliferative syndrome type 4 ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of the large intestine ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Thyroid tumor ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Acute myeloid leukemia ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Neoplasm of ovary ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND OCULOECTODERMAL SYNDROME, SOMATIC ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND not provided ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Inborn genetic diseases ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Nevus sebaceous ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND Encephalocraniocutaneous lipomatosis ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND RASopathy ClinVar Detail
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) AND KRAS-related disorder ClinVar Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one ... DisGeNET Detail
Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... DisGeNET Detail
NA DisGeNET Detail
This system allowed us to rapidly compare the ability of 12 different KRAS mutations (G12A, G12C, G1... DisGeNET Detail
KRAS p.G13D mutation and codon 12 mutations are not created equal in predicting clinical outcomes of... DisGeNET Detail
Cetuximab-based or bevacizumab-based first-line treatment in patients with KRAS p.G13D-mutated metas... DisGeNET Detail
KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... DisGeNET Detail
We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... DisGeNET Detail
Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer treated with cetuxim... DisGeNET Detail
The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... DisGeNET Detail
Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... DisGeNET Detail
KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... DisGeNET Detail
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... DisGeNET Detail
We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... DisGeNET Detail
In this analysis, use of cetuximab was associated with longer overall and progression-free survival ... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... DisGeNET Detail
We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... DisGeNET Detail
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... DisGeNET Detail
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... DisGeNET Detail
KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... DisGeNET Detail
We compared the metastatic efficiency of KRas G12V (Kirsten rat sarcoma viral oncogene homolog with ... DisGeNET Detail
We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... DisGeNET Detail
Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic... DisGeNET Detail
KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... DisGeNET Detail
Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer ... DisGeNET Detail
NA DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... DisGeNET Detail
We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... DisGeNET Detail
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... DisGeNET Detail
We find that in colon cancer cells harboring a KRAS(G13D) mutant allele, knocking down KRAS alone or... DisGeNET Detail
KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... DisGeNET Detail
KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... DisGeNET Detail
In this analysis, use of cetuximab was associated with longer overall and progression-free survival ... DisGeNET Detail
KRAS was knocked-down in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)) by small interfering RN... DisGeNET Detail
Association KRAS G13D tumor mutated outcome in patients with chemotherapy refractory metastatic colo... DisGeNET Detail
Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) ... DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... DisGeNET Detail
Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... DisGeNET Detail
KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal ... DisGeNET Detail
KRAS MASI is a significant event in colorectal cancer, specifically associated with G13D mutation, a... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... DisGeNET Detail
The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D... DisGeNET Detail
Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival ... 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
rs112445441 dbSNP
Genome
hg38
Position
chr12:25,245,347-25,245,347
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
G13D
Transcript 1 (CIViC Variant)
ENST00000256078.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/81
Summary (CIViC Variant)
While the KRAS G13 region is a widely studied recurrent region in cancer, its impact on clinical action is still debated. Often associated with tumors that are wild-type for other drivers (EGFR and ALK specifically), the prognosis for patients with this mutation seems to be worse than the KRAS wild-type cohort. This mutation, along with the mutations affecting the neighboring G12 position, may result in a less responsive tumor when treated with first-generation TKI's like gefitinib. However, results are conflicting with retrospective analyses suggesting a better response to EGFR-Inhibition. A recent prospective phase-II study (12 patients, Schirripa et. al. 2015) could not reproduce this finding and another prospective phase II trial is currently ongoing.
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