chr5:170837548:>TCTG Detail (hg19) (NPM1)

Information

Genome

Assembly Position
hg19 chr5:170,837,548-170,837,548
hg38 chr5:171,410,544-171,410,544 

HGVS

Type Transcript Protein
RefSeq NM_002520.6:c.863_864insTCTG NP_002511.1:p.Trp288CysfsTer12
NM_199185.3:c.776_777insTCTG NP_954654.1:p.Trp259CysfsTer12
Ensemble ENST00000679190.1:c.*46_*47insTCTG
Summary

MGeND

Clinical significance
Variant entry
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
Review star
Show details
Links
Type Database ID Link
Gene MIM 164040 OMIM
HGNC 7910 HGNC
Ensembl ENSG00000181163 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM20866 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-01-20 no assertion criteria provided acute myeloid leukemia unknown somatic Detail
Pathogenic 2016-01-08 criteria provided, single submitter Myelodysplastic syndrome progressed to acute myeloid leukemia somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia B Diagnostic Does Not Support Positive Somatic 4 21067377 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 4 21067377 Detail
acute myeloid leukemia NSC348884 D Predictive Supports Sensitivity/Response Somatic 3 21719597 Detail
acute myeloid leukemia Induction Therapy E Predictive Supports Sensitivity/Response Somatic 3 15659725 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
No NPM1 mutations were identified in patients with favorable risk cytogenetics (79/215 patients). CIViC Evidence Detail
NPM1 mutations were associated with intermediate risk cytogenetics (including normal karyotype). CIViC Evidence Detail
NSC348884 induced apoptosis in OPI-AML3 cells harboring an NPM1 mutation. CIViC Evidence Detail
NPM1 mutation (Type A, W288fs) causes cytoplasmic localization of NPM when transfected into a non-he... CIViC Evidence Detail
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) AND Acute myeloid leukemia ClinVar Detail
NM_002520.7(NPM1):c.860_863dup (p.Trp288fs) AND Myelodysplastic syndrome progressed to acute myeloid... 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
rs587776806 dbSNP
Genome
hg19
Position
chr5:170,837,548-170,837,548
Variant Type
snv
Reference Allele
-
Alternative Allele
TCTG
East Asian Chromosome Counts (ExAC)
8384
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)
119102
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)
8.396164631996104E-6
Variant (CIViC) (CIViC Variant)
W288FS
Transcript 1 (CIViC Variant)
ENST00000517671.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/87
Summary (CIViC Variant)
NPM1 W288fs (aka NPM1-A) is located in exon 12 of NPM1 and is the most common NPM1 mutation identified in acute myeloid leukemia. This mutation results in cytoplasmic localization of NPM1 (NPM1c) which is associated with a good response to induction therapy. Although it is the most extensively studied NPM1 exon 12 mutation, it is generally grouped with other exon 12 mutations for patient analysis (see NPM1 Exon 12 variants for more information).
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