chr1:115258748:C>T Detail (hg19) (NRAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:115,258,748-115,258,748 |
| hg38 | chr1:114,716,127-114,716,127 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002524.4:c.34G>A | NP_002515.1:p.Gly12Ser |
| Ensemble | ENST00000369535.5:c.34G>A | ENST00000369535.5:p.Gly12Ser |
Summary
MGeND
| Clinical significance |
Pathogenic
Uncertain significance
not provided
|
| Variant entry | 16 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
ascending colon |
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 | ||||
|
not provided
|
Soft tissue sarcoma |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
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
|
caecum |
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
|
2013-12-02 | no assertion criteria provided | Noonan syndrome,juvenile myelomonocytic leukemia |
germline
|
Detail |
|
Pathogenic
|
2013-12-02 | no assertion criteria provided | Noonan syndrome,juvenile myelomonocytic leukemia |
germline
|
Detail |
|
Pathogenic
|
2022-02-03 | criteria provided, single submitter | not provided |
germline
|
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 |
|
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 | myelodysplastic syndrome |
somatic
|
Detail |
|
Pathogenic
|
2014-10-02 | no assertion criteria provided | melanoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
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 | gastric adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Pathogenic
|
2023-07-24 | criteria provided, multiple submitters, no conflicts | RASopathy |
germline
|
Detail |
|
Pathogenic
|
2018-11-01 | criteria provided, single submitter | Noonan syndrome and Noonan-related syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-09-11 | criteria provided, single submitter | Noonan syndrome 6 |
de novo
|
Detail |
CIViC
[No Data.]
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 |
| 0.490 | juvenile myelomonocytic leukemia | NA | CLINVAR | Detail | |
| 0.360 | Noonan syndrome 6 | NA | CLINVAR | Detail | |
| 0.236 | melanoma | Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34... | BeFree | 24335517 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND not provided | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Melanoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Multiple myeloma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND RASopathy | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome and Noonan-related syndrome | ClinVar | Detail |
| NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) AND Noonan syndrome 6 | 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 |
| Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34G>T (G12C). | 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
- rs121913250 dbSNP
- Genome
- hg19
- Position
- chr1:115,258,748-115,258,748
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- G12S
- Transcript 1 (CIViC Variant)
- ENST00000369535.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/898
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