chr1:115258747:C>T Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,258,747-115,258,747 |
| hg38 | chr1:114,716,126-114,716,126 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.35G>A | NP_002515.1:p.Gly12Asp |
| Ensemble | ENST00000369535.5:c.35G>A | ENST00000369535.5:p.Gly12Asp |
Summary
MGeND
| Clinical significance |
Pathogenic
Uncertain significance
not provided
|
| Variant entry | 54 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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
|
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
|
body of stomach |
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
|
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 | ||||
|
Pathogenic
|
Primary malignant clear cell tumor of ovary (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
|
Uncertain significance
|
Langerhans cell histiocytosis (LCH) |
unknown
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
|
Uncertain significance
|
acute lymphoblastic leukaemia (ALL) |
unknown
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
Juvenile myelomonocytic leukemia |
somatic
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University | ||||
|
not provided
|
descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2013-12-05 | no assertion criteria provided | epidermal nevus |
somatic
|
Detail |
|
Pathogenic
|
2013-12-05 | no assertion criteria provided | juvenile myelomonocytic leukemia |
somatic
|
Detail |
|
Pathogenic
Likely pathogenic
|
2021-12-16 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
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 | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
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 | Malignant melanoma of skin |
somatic
|
Detail |
|
Pathogenic
|
2021-03-26 | criteria provided, single submitter | Noonan syndrome 6 |
de novo
|
Detail |
|
Likely pathogenic
|
2019-12-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-10-12 | criteria provided, single submitter | RASopathy |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | autoimmune lymphoproliferative syndrome type 4 |
germline
|
Detail | |
|
Pathogenic
|
2022-09-13 | criteria provided, single submitter | NRAS-related disorder |
germline
|
Detail |
|
Pathogenic
|
2024-01-12 | criteria provided, single submitter |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| colorectal cancer | Cetuximab | B |
Predictive
|
Supports
|
Resistance | Somatic | 25666295 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | diffuse large B-cell lymphoma | Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... | BeFree | 9139869 | Detail |
| <0.001 | chronic lymphocytic leukemia | Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic... | BeFree | 9139869 | Detail |
| 0.240 | NEVUS, EPIDERMAL (disorder) | NA | CLINVAR | Detail | |
| 0.490 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
| 0.360 | Noonan syndrome 6 | NA | CLINVAR | Detail | |
| 0.002 | leukemia | NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activat... | BeFree | 25316678 | Detail |
| 0.236 | melanoma | In a limited validation of potentially actionable low frequency mutations, a NRA... | BeFree | 24885028 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acu... | BeFree | 21163920 | Detail |
| <0.001 | Pre B-cell acute lymphoblastic leukemia | Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces ... | BeFree | 24821775 | Detail |
| <0.001 | Developmental Disabilities | Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12... | BeFree | 21263000 | Detail |
| 0.039 | Leukemia, Myelocytic, Acute | To elucidate the downstream functions of activated NRAS in AML, we used a murine... | BeFree | 25316678 | Detail |
| 0.005 | leukemia | NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activat... | BeFree | 25316678 | Detail |
| 0.005 | leukemia | Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acu... | BeFree | 21163920 | Detail |
| <0.001 | Nevus, Blue | When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induc... | BeFree | 23303902 | Detail |
| <0.001 | Undifferentiated leukemia | Analysis of the gene-expression patterns of leukemic subpopulations revealed tha... | BeFree | 25316678 | Detail |
| 0.001 | Pre B-cell acute lymphoblastic leukemia | Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces ... | BeFree | 24821775 | Detail |
| <0.001 | leukemia | In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which ha... | BeFree | 25316678 | Detail |
| 0.240 | leukemia | Using computational approaches to explore our gene-expression data sets, we foun... | BeFree | 25316678 | Detail |
| 0.236 | melanoma | When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induc... | BeFree | 23303902 | Detail |
| 0.006 | Cutaneous Melanoma | When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induc... | BeFree | 23303902 | Detail |
| 0.001 | leukemia | In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which ha... | BeFree | 25316678 | Detail |
| <0.001 | Acute Undifferentiated Leukemia | Analysis of the gene-expression patterns of leukemic subpopulations revealed tha... | BeFree | 25316678 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a retrospective study of 148 treatment naive metastatic colorectal cancer patients, patients with... | CIViC Evidence | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Epidermal nevus | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Juvenile myelomonocytic leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND not provided | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Noonan syndrome 6 | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND RASopathy | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Autoimmune lymphoproliferative syndrome type 4 | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND NRAS-related disorder | ClinVar | Detail |
| NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) AND Cardiovascular phenotype | ClinVar | Detail |
| Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... | DisGeNET | Detail |
| Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) ha... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activation, implicating the... | DisGeNET | Detail |
| In a limited validation of potentially actionable low frequency mutations, a NRAS G12D mutation in a... | DisGeNET | Detail |
| Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acute myeloid leukemia ... | DisGeNET | Detail |
| Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces cellular stress and ... | DisGeNET | Detail |
| Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included... | DisGeNET | Detail |
| To elucidate the downstream functions of activated NRAS in AML, we used a murine model that harbors ... | DisGeNET | Detail |
| NRAS(G12V) maintained leukemia self-renewal through mTOR and MEK pathway activation, implicating the... | DisGeNET | Detail |
| Injecting Mx1-Cre, LSL-Nras(G12D) mice with the MOL4070LTR retrovirus causes acute myeloid leukemia ... | DisGeNET | Detail |
| When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte prolif... | DisGeNET | Detail |
| Analysis of the gene-expression patterns of leukemic subpopulations revealed that the NRAS(G12V)-med... | DisGeNET | Detail |
| Inducible, Cre-mediated deletion of Hspa5, Prdm1, and Xbp1 consistently induces cellular stress and ... | DisGeNET | Detail |
| In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which harbor leukemia stem c... | DisGeNET | Detail |
| Using computational approaches to explore our gene-expression data sets, we found that NRAS(G12V) en... | DisGeNET | Detail |
| When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte prolif... | DisGeNET | Detail |
| When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte prolif... | DisGeNET | Detail |
| In a multiplexed analysis of RAS-dependent signaling, Mac-1(Low) cells, which harbor leukemia stem c... | DisGeNET | Detail |
| Analysis of the gene-expression patterns of leukemic subpopulations revealed that the NRAS(G12V)-med... | 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
- rs121913237 dbSNP
- Genome
- hg19
- Position
- chr1:115,258,747-115,258,747
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121410
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236553825879253E-6
- Variant (CIViC) (CIViC Variant)
- G12D
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/878
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