chr2:208248389:G>A Detail (hg38) (IDH1)

Information

Genome

Assembly Position
hg19 chr2:209,113,113-209,113,113 View the variant detail on this assembly version.
hg38 chr2:208,248,389-208,248,389

HGVS

Type Transcript Protein
RefSeq NM_005896.3:c.394C>T NP_005887.2:p.Arg132Cys
NM_001282387.1:c.394C>T NP_001269316.1:p.Arg132Cys
NM_001282386.1:c.394C>T NP_001269315.1:p.Arg132Cys
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 147700 OMIM
HGNC 5382 HGNC
Ensembl ENSG00000138413 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10303693 TogoVar
COSMIC COSM28747 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic RAEB(refractory anemia with excess blasts)-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 myelodysplastic syndrome;MDS|RAEB(refractory anemia with excess blasts)-2, RCMD(refractory cytopenia with multilineage dysplasia) unknown MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Astrocytoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided hepatocellular carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided medulloblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma 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 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided adenoid cystic carcinoma 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 prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided myelodysplastic syndrome somatic Detail
Pathogenic 2019-03-12 criteria provided, single submitter acute myeloid leukemia germline somatic Detail
Pathogenic Likely pathogenic 2021-03-01 criteria provided, multiple submitters, no conflicts not provided germline somatic Detail
Pathogenic 2022-05-09 criteria provided, single submitter Enchondromatosis germline Detail
Pathogenic 2022-08-11 criteria provided, single submitter Maffucci syndrome,Enchondromatosis somatic Detail
Pathogenic 2022-08-11 criteria provided, single submitter Maffucci syndrome,Enchondromatosis somatic Detail
Pathogenic criteria provided, single submitter Glioma susceptibility 1 somatic Detail
Pathogenic 2023-09-08 criteria provided, single submitter Maffucci syndrome somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 20538800 Detail
brain glioma Temozolomide B Predictive Supports Sensitivity/Response Somatic 2 20975057 Detail
high grade glioma AGI-5198 D Predictive Supports Sensitivity/Response Somatic 2 23558169 Detail
acute myeloid leukemia Ivosidenib B Predictive Supports Sensitivity/Response Somatic 2 25583779 Detail
acute myeloid leukemia BPTES D Predictive Supports Sensitivity/Response Somatic 3 24333121 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 2 20538800 Detail
acute myeloid leukemia GSK321 D Predictive Supports Sensitivity/Response Somatic 3 26436839 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Vascular lesions We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
<0.001 Vascular lesions We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.052 Glioma Furthermore, one of multi-specific mAbs, MsMab-1, recognizes IDH1 mutants (R132H... BeFree 25324168 Detail
0.121 hemangioma We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.120 hemangioma We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C ... BeFree 22057234 Detail
0.028 Astrocytoma Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li... BeFree 19340432 Detail
<0.001 Astrocytoma Without exception, all were R132C (CGT--&gt;TGT), which in sporadic astrocytomas... BeFree 19340432 Detail
<0.001 Vascular Neoplasms R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vasc... BeFree 23485734 Detail
0.051 Leukemia, Myelocytic, Acute The IDH1 R132C mutation commonly found in AML reduces the affinity for isocitrat... BeFree 20142433 Detail
<0.001 Astrocytoma Without exception, all were R132C (CGT--&gt;TGT), which in sporadic astrocytomas... BeFree 19340432 Detail
0.028 Astrocytoma IDH1 mutations of the R132C type are strongly associated with astrocytoma, while... BeFree 19554337 Detail
0.004 Primary myelofibrosis IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PM... BeFree 20410924 Detail
<0.001 Congenital Abnormality R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vasc... BeFree 23485734 Detail
<0.001 Li-Fraumeni syndrome Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li... BeFree 19340432 Detail
0.051 Leukemia, Myelocytic, Acute IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PM... BeFree 20410924 Detail
<0.001 fibrosarcoma Here, using a genetically engineered inducible system, we report that selective ... BeFree 22885298 Detail
0.222 Glioma We newly established an anti-IDH1-R132S-specific mAb SMab-1 for use in diagnosis... BeFree 21352804 Detail
0.003 polycythemia vera IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PM... BeFree 20410924 Detail
0.222 Glioma IDH1 sequencing revealed two mutations (IDH1 (R132G) , IDH1 (R132C) ) out of 7 D... BeFree 24242757 Detail
0.121 Maffucci syndrome Somatic mosaic R132C IDH1 hotspot mutations were recently identified in Maffucci... BeFree 23485734 Detail
<0.001 stomach carcinoma R132H and R132C missense mutations in the IDH1 gene were observed, and are the f... BeFree 25656989 Detail
0.222 Glioma The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is... BeFree 22323113 Detail
0.121 hemangioma R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vasc... BeFree 23485734 Detail
0.051 Leukemia, Myelocytic, Acute The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is... BeFree 22323113 Detail
0.003 Lymphoma, Non-Hodgkin Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132... BeFree 20946881 Detail
Annotation

Annotations

DescrptionSourceLinks
IDH1 R132 mutation is associated with patients of older age, high platelet count during diagnosis, c... CIViC Evidence Detail
In a study of 189 low-grade gliomas, IDH (IDH1 or IDH2) mutations were found in 132 patients (70%). ... CIViC Evidence Detail
In an experimental in vitro study, glioma cells expressing IDH1 R132C were associated with sensitivi... CIViC Evidence Detail
In a clinical study of 17 relapsed or refractory AML patients harboring IDH1 mutations, these patien... CIViC Evidence Detail
In an experimental study of acute myeloid leukemia (AML) cell lines expressing IDH1 R132C, IDH1 R132... CIViC Evidence Detail
IDH1 R132 mutation in patients with AML is not associated with any prognostic value compared to pati... CIViC Evidence Detail
Newly developed allosteric inhibitors (GSK321) of IDH1 led to granulocytic differentiation in-vitro ... CIViC Evidence Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Neoplasm of brain ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Lung adenocarcinoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Breast neoplasm ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Astrocytoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Hepatocellular carcinoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Medulloblastoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Multiple myeloma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Malignant melanoma of skin ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Transitional cell carcinoma of the bladder ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Adenoid cystic carcinoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Neoplasm of the large intestine ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Prostate adenocarcinoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Brainstem glioma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Glioblastoma ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Myelodysplastic syndrome ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Acute myeloid leukemia ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND not provided ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Enchondromatosis ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND multiple conditions ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND multiple conditions ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Glioma susceptibility 1 ClinVar Detail
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) AND Maffucci syndrome ClinVar Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
Furthermore, one of multi-specific mAbs, MsMab-1, recognizes IDH1 mutants (R132H, R132S, R132G) and ... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
We report somatic heterozygous mutations in IDH1 (c.394C&gt;T encoding an R132C substitution and c.3... DisGeNET Detail
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. DisGeNET Detail
Without exception, all were R132C (CGT--&gt;TGT), which in sporadic astrocytomas accounts for &lt;5%... DisGeNET Detail
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malfo... DisGeNET Detail
The IDH1 R132C mutation commonly found in AML reduces the affinity for isocitrate, and increases the... DisGeNET Detail
Without exception, all were R132C (CGT--&gt;TGT), which in sporadic astrocytomas accounts for &lt;5%... DisGeNET Detail
IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations pred... DisGeNET Detail
IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; p... DisGeNET Detail
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malfo... DisGeNET Detail
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome. DisGeNET Detail
IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; p... DisGeNET Detail
Here, using a genetically engineered inducible system, we report that selective suppression of endog... DisGeNET Detail
We newly established an anti-IDH1-R132S-specific mAb SMab-1 for use in diagnosis of mutation-bearing... DisGeNET Detail
IDH1 mutations included R132C (n=4; two post-PMF AML, one post-PV AML and one PMF) and R132S (n=1; p... DisGeNET Detail
IDH1 sequencing revealed two mutations (IDH1 (R132G) , IDH1 (R132C) ) out of 7 DIBG whereas the R132... DisGeNET Detail
Somatic mosaic R132C IDH1 hotspot mutations were recently identified in Maffucci syndrome. DisGeNET Detail
R132H and R132C missense mutations in the IDH1 gene were observed, and are the first reported mutati... DisGeNET Detail
The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is not common in diffu... DisGeNET Detail
R132C IDH1 mutations are found in spindle cell hemangiomas and not in other vascular tumors or malfo... DisGeNET Detail
The frequency of IDH1/2 mutations was 56%, and the IDH1 R132C mutation, which is not common in diffu... DisGeNET Detail
Except for one non-Hodgkin lymphoma (NHL) patient harboring IDH1 mutation p.R132C, all IDH1 and IDH2... 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
rs121913499 dbSNP
Genome
hg38
Position
chr2:208,248,389-208,248,389
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
R132C
Transcript 1 (CIViC Variant)
ENST00000415913.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/59
Summary (CIViC Variant)
IDH1 R132 mutations have been observed in a number of cancer types, and appear to behave quite differently in different environments. In myelodysplastic syndromes and acute myeloid leukemia (AML), IDH1 R132 mutations have been shown to be associated with worse outcome and shorter overall survival. They have also been linked to cytogenetically normal AML, an intermediate risk subtype of the disease. However, in glioblastoma and astrocytoma, patients with IDH1 mutations have shown better overall survival than patients with wild-type IDH1. Also in contrast to AML, in glioblastoma, IDH1 mutations have been associated with the specific cytogenetic abnormalities, 1p and 19q deletions.
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