chr1:115256530:G>T Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,256,530-115,256,530 |
| hg38 | chr1:114,713,909-114,713,909 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.181C>A | NP_002515.1:p.Gln61Lys |
| Ensemble | ENST00000369535.5:c.181C>A | ENST00000369535.5:p.Gln61Lys |
Summary
MGeND
| Clinical significance |
Pathogenic
Uncertain significance
not provided
|
| Variant entry | 47 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| 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
|
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 rectum |
not provided
|
MGS000040
(TMGS000095) |
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
|
descending 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 rectum |
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
|
Acute myeloblastic leukaemia |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
Uncertain significance
|
Cholangiocarcinoma of biliary tract (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Pathogenic
|
Colorectal |
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
|
Thymic carcinoma |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
Tumors of unknown primary site (Malignant bone tumor) |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
not provided
|
Testicular cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
Pathogenic
|
other |
somatic
|
MGS000073
(TMGS000145) |
Kenjiro Kosaki |
Keio University IRUD |
||||
|
not provided
|
other |
somatic
|
MGS000039
(TMGS000092) |
Hitoshi Nakagama | National Cancer Center Japan |
29659903
|
|||
|
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
|
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
|
2020-05-21 | criteria provided, single submitter | large congenital melanocytic nevus |
germline
somatic
|
Detail |
|
Pathogenic
|
2013-09-01 | no assertion criteria provided | Neurocutaneous melanocytosis |
somatic
|
Detail |
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | B-cell chronic lymphocytic leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
not provided
|
2016-03-10 | no assertion provided | neuroblastoma |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Nasopharyngeal neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Adrenal cortex carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | hepatocellular carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | ovarian serous cystadenocarcinoma |
somatic
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
drug response
|
2017-11-27 | no assertion criteria provided |
somatic
|
Detail | |
|
Likely pathogenic
|
2015-02-19 | no assertion criteria provided | Vascular Tumors Including Pyogenic Granuloma |
somatic
|
Detail |
|
Uncertain significance
|
2018-01-29 | criteria provided, single submitter | RASopathy |
unknown
|
Detail |
|
Pathogenic
|
2018-09-01 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| neuroblastoma | Binimetinib,Everolimus | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26821351 | Detail |
| skin melanoma | Vemurafenib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 22194965 | Detail |
| skin melanoma | Selumetinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 22194965 | Detail |
| colorectal cancer | Selumetinib,Dactolisib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 22392911 | Detail |
| lung non-small cell carcinoma | Trametinib,Selumetinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 23515407 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | melanoma | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... | BeFree | 25189354 | Detail |
| 0.061 | melanoma | These results suggest a crucial role of keratinocytic RXRα to suppress formation... | BeFree | 25189354 | Detail |
| <0.001 | melanoma | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (... | BeFree | 25189354 | Detail |
| 0.009 | Neoplasm Metastasis | Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... | BeFree | 14695143 | Detail |
| 0.002 | Neoplasm Metastasis | Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... | BeFree | 15737846 | Detail |
| 0.236 | melanoma | We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V6... | BeFree | 20925915 | Detail |
| 0.009 | Neoplasm Metastasis | Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 ... | BeFree | 15737846 | Detail |
| 0.002 | Neoplasm Metastasis | Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 n... | BeFree | 14695143 | Detail |
| 0.240 | Neurocutaneous melanosis | NA | CLINVAR | Detail | |
| 0.360 | GIANT PIGMENTED HAIRY NEVUS | NA | CLINVAR | Detail | |
| 0.001 | Colorectal cancer metastatic | We report two cases of mCRC with a Q61K NRAS mutation that had a favorable respo... | BeFree | 23400451 | Detail |
| <0.001 | sarcoma | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... | BeFree | 23382236 | Detail |
| 0.236 | melanoma | In this study, we performed an integrative analysis of DNA methylation, gene exp... | BeFree | 25537510 | Detail |
| 0.009 | colorectal cancer | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | BeFree | 23400451 | Detail |
| 0.007 | colorectal carcinoma | Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | BeFree | 23400451 | Detail |
| 0.003 | sarcoma | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... | BeFree | 23382236 | Detail |
| <0.001 | sarcoma | We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1... | BeFree | 23382236 | Detail |
| <0.001 | Stage IV Skin Melanoma | Carcinogen treatment in mouse selectively expressing activated N-Ras Q61K in mel... | BeFree | 22128787 | Detail |
| 0.236 | melanoma | In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute t... | BeFree | 18668139 | Detail |
| 0.025 | melanoma | In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute t... | BeFree | 18668139 | 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 | 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 | mycosis fungoides | One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; o... | BeFree | 21209378 | Detail |
| 0.120 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| <0.001 | diffuse large B-cell lymphoma | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.001 | B-Cell Lymphomas | Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lym... | BeFree | 22575864 | Detail |
| 0.236 | melanoma | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48%... | BeFree | 23855428 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In-vitro study in 5 neuroblastoma cell lines (2 with NRAS Q61K mutation). The combination of mTOR an... | CIViC Evidence | Detail |
| Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was asso... | CIViC Evidence | Detail |
| Preclinical study in melanoma cell lines. NRAS Q61K, in addition to the BRAF V600E mutation was asso... | CIViC Evidence | Detail |
| In 28 out of 40 (70%) metastatic colorectal cancer tumors harboring mutations in KRAS, NRAS, BRAF, o... | CIViC Evidence | Detail |
| Of the 4,562 patients with lung cancers, 30 showed NRAS mutations, which corresponded to 9 different... | CIViC Evidence | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Large congenital melanocytic nevus | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neurocutaneous melanocytosis | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND B-cell chronic lymphocytic leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neuroblastoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Nasopharyngeal neoplasm | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Glioblastoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Transitional cell carcinoma of the bladder | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Adrenal cortex carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neoplasm of brain | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Hepatocellular carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Ovarian serous cystadenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Ras Inhibitor response | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND Vascular Tumors Including Pyogenic Granuloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND RASopathy | ClinVar | Detail |
| NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) AND not provided | ClinVar | Detail |
| Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... | DisGeNET | Detail |
| These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced mela... | DisGeNET | Detail |
| Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively activ... | DisGeNET | Detail |
| Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... | DisGeNET | Detail |
| Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... | DisGeNET | Detail |
| We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and N... | DisGeNET | Detail |
| Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, an... | DisGeNET | Detail |
| Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report two cases of mCRC with a Q61K NRAS mutation that had a favorable response to bevacizumab a... | DisGeNET | Detail |
| We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... | DisGeNET | Detail |
| In this study, we performed an integrative analysis of DNA methylation, gene expression, and microRN... | DisGeNET | Detail |
| Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | DisGeNET | Detail |
| Bevacizumab-based treatment in colorectal cancer with a NRAS Q61K mutation. | DisGeNET | Detail |
| We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... | DisGeNET | Detail |
| We show that the human sarcoma cell line HT1080 harbors both NRAS(Q61K) and RAC1(N92I) mutant protei... | DisGeNET | Detail |
| Carcinogen treatment in mouse selectively expressing activated N-Ras Q61K in melanocytes recapitulat... | DisGeNET | Detail |
| In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resista... | DisGeNET | Detail |
| In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resista... | 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 |
| 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 |
| One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome a... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutations of the BRAF gene were identified in six (24%) diffuse large B-cell lymphomas (D594G in thr... | DisGeNET | Detail |
| Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of ... | 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
- rs121913254 dbSNP
- Genome
- hg19
- Position
- chr1:115,256,530-115,256,530
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- Q61K
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/427
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