chr15:90631934:C>T Detail (hg19) (IDH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:90,631,934-90,631,934 |
| hg38 | chr15:90,088,702-90,088,702 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001289910.1:c.263G>A | NP_001276839.1:p.Arg88Gln |
| NM_001290114.1:c.263G>A | NP_001277043.1:p.Arg88Gln | |
| NM_002168.3:c.419G>A | NP_002159.2:p.Arg140Gln |
Summary
MGeND
| Clinical significance |
Likely pathogenic
Pathogenic
not provided
|
| Variant entry | 35 |
| 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
|
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 | ||||
|
Likely pathogenic
|
RAEB(refractory anemia with excess blasts)-1 |
unknown
|
MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University | ||||
|
Likely pathogenic
|
RAEB-2 |
unknown
|
MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University | ||||
|
Likely pathogenic
|
RCMD(refractory cytopenia with multilineage dysplasia) |
unknown
|
MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University | ||||
|
Likely pathogenic
|
CMML(chronic myelomonocytic leukemia)-2 |
unknown
|
MGS000001
(TMGS000162) |
Kenjiro Kosaki | Keio University | ||||
|
Likely pathogenic
|
myelodysplastic syndrome;MDS|RAEB(refractory anemia with excess blasts)-1, RAEB-2, RCMD(refractory cytopenia with multilineage dysplasia), CMML(chronic myelomonocytic leukemia)-2 |
unknown
|
MGS000001
(TMGS000174) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | transverse colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | 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
Likely pathogenic
|
2022-02-02 | criteria provided, multiple submitters, no conflicts | D-2-hydroxyglutaric aciduria 2 |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2022-04-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
2016-05-31 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | myelodysplastic syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | multiple myeloma |
somatic
|
Detail |
|
Pathogenic
|
2022-12-30 | criteria provided, single submitter | Inborn genetic diseases |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Acute Erythroblastic Leukemia | To further understand the role of IDH mutations in cancer, we conducted mechanis... | BeFree | 25398940 | Detail |
| <0.001 | blastic plasmacytoid dendritic cell neoplasm | Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid d... | BeFree | 25481493 | Detail |
| <0.001 | D-2-hydroxyglutaric aciduria 1 | To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evalua... | BeFree | 21889589 | Detail |
| 0.560 | Leukemia, Myelocytic, Acute | To determine whether mutant IDH enzymes are valid targets for cancer therapy, we... | BeFree | 25795706 | Detail |
| 0.018 | Leukemia, Myelocytic, Acute | To determine whether mutant IDH enzymes are valid targets for cancer therapy, we... | BeFree | 25795706 | Detail |
| 0.240 | D-2-hydroxyglutaric aciduria 2 | NA | CLINVAR | Detail | |
| 0.036 | Leukemia, Myelocytic, Acute | Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. | BeFree | 23949315 | Detail |
| 0.003 | Primary myelofibrosis | IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PM... | BeFree | 20410924 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND D-2-hydroxyglutaric aciduria 2 | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND not provided | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Acute myeloid leukemia | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Myelodysplastic syndrome | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Multiple myeloma | ClinVar | Detail |
| NM_002168.4(IDH2):c.419G>A (p.Arg140Gln) AND Inborn genetic diseases | ClinVar | Detail |
| To further understand the role of IDH mutations in cancer, we conducted mechanistic studies in the T... | DisGeNET | Detail |
| Here, we describe the first case of an IDH2 R140Q-mutated blastic plasmacytoid dendritic cell neopla... | DisGeNET | Detail |
| To confirm the IDH2(wt/R140Q) gain-of-function in D-2-HGA type II, and to evaluate potential therape... | DisGeNET | Detail |
| To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod... | DisGeNET | Detail |
| To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse mod... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia. | DisGeNET | Detail |
| IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W... | 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
- rs121913502 dbSNP
- Genome
- hg19
- Position
- chr15:90,631,934-90,631,934
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121404
- Allele Counts in All Race (ExAC)
- 12
- Heterozygous Counts in All Race (ExAC)
- 12
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.884353069091628E-5
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