chr12:25398285:C>G Detail (hg19) (KRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:25,398,285-25,398,285 |
| hg38 | chr12:25,245,351-25,245,351 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004985.4:c.34G>C | NP_004976.2:p.Gly12Arg |
| NM_033360.3:c.34G>C | NP_203524.1:p.Gly12Arg | |
| Ensemble | ENST00000256078.10:c.34G>C | ENST00000256078.10:p.Gly12Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 100 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
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
|
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
|
head of pancreas |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
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 | ||||
|
not provided
|
Carcinoma of endocrine pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Pancreas |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of small intestine (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Primary malignant neoplasm of pancreatic duct |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Adenocarcinoma of pancreas |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000023
(TMGS000082) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
Carcinoma of pancreas (disorder) |
unknown
|
MGS000025
(TMGS000084) |
Manabu Muto | Kyoto University | ||||
|
not provided
|
pancreatic cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
duodenum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
jejunum |
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
|
extrahepatic bile duct |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
head of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
body of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
tail of pancreas |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
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
|
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
|
colon, unspecified |
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
|
head of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
ill-defined sites within the digestive system |
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 |
|---|---|---|---|---|---|
|
Pathogenic
|
1984-02-17 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Pathogenic
|
1984-02-17 | no assertion criteria provided | Malignant tumor of urinary bladder |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria 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 ovary |
somatic
|
Detail |
|
Pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Pathogenic
|
2018-02-01 | no assertion criteria provided | adenoid cystic carcinoma |
somatic
|
Detail |
|
Pathogenic
|
2022-02-01 | criteria provided, single submitter | not provided |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2022-07-04 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| pancreatic cancer | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 4 | 22983505 | Detail | |
| colorectal cancer | Panitumumab | C |
Predictive
|
Supports
|
Resistance | Somatic | 18316791 | Detail | |
| colorectal cancer | Cetuximab | D |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 22722830 | Detail |
| colorectal cancer | Regorafenib | D |
Predictive
|
Supports
|
Resistance | Somatic | 26161928 | 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
| Descrption | Source | Links |
|---|---|---|
| In 242 patients with unresectable pancreatic cancer, the presence of KRAS G12R (N=17) or G12D (N=92)... | CIViC Evidence | Detail |
| In a retrospective study of 427 metastatic colorectal patients, KRAS mutations were observed in 43% ... | CIViC Evidence | Detail |
| In an in vitro study to identify cetuximab-resistant clones following continuous drug treatment, a r... | CIViC Evidence | Detail |
| In an in vitro study, a SW48 cell line expressing KRAS G12R mutation demonstrated decreased sensitiv... | CIViC Evidence | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Malignant tumor of urinary bladder | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Thyroid tumor | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Neoplasm of ovary | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND Adenoid cystic carcinoma | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) AND not provided | ClinVar | Detail |
| NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) 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
- hg19
- Position
- chr12:25,398,285-25,398,285
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- G12R
- Transcript 1 (CIViC Variant)
- ENST00000256078.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/530
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