chr15:90084321:G>A Detail (hg38) (IDH2)

Information

Genome

Assembly Position
hg19 chr15:90,627,553-90,627,553 View the variant detail on this assembly version.
hg38 chr15:90,084,321-90,084,321

HGVS

Type Transcript Protein
RefSeq NM_002168.3:c.1304C>T NP_002159.2:p.Thr435Met
NM_001289910.1:c.1148C>T NP_001276839.1:p.Thr383Met
NM_001290114.1:c.1148C>T NP_001277043.1:p.Thr383Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 147650 OMIM
HGNC 5383 HGNC
Ensembl ENSG00000182054 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53946735 TogoVar
COSMIC COSM6494433 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2014-04-18 criteria provided, single submitter not specified germline Detail
Likely benign 2024-01-01 criteria provided, single submitter not provided germline unknown Detail
Benign 2024-01-18 criteria provided, single submitter D-2-hydroxyglutaric aciduria 2 germline Detail
Uncertain significance criteria provided, single submitter Enchondromatosis paternal Detail
Likely benign 2020-11-29 criteria provided, single submitter IDH2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) AND not specified ClinVar Detail
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) AND not provided ClinVar Detail
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) AND D-2-hydroxyglutaric aciduria 2 ClinVar Detail
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) AND Enchondromatosis ClinVar Detail
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) AND IDH2-related disorder ClinVar 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
rs118053940 dbSNP
Genome
hg38
Position
chr15:90,084,321-90,084,321
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs118053940
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8556
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)
117718
Allele Counts in All Race (ExAC)
454
Heterozygous Counts in All Race (ExAC)
450
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.003856674425321531
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