chr5:171410527:> Detail (hg38) (NPM1)

Information

Genome

Assembly Position
hg19 chr5:170,837,531-170,837,569 
hg38 chr5:171,410,527-171,410,565

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia B Diagnostic Does Not Support Positive Somatic 3 16455956 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 26789727 Detail
acute myeloid leukemia B Diagnostic Supports Negative Somatic 4 16076867 Detail
acute myeloid leukemia A Diagnostic Supports Positive Somatic 5 19357394 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 2 17957027 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 4 16076867 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 16455956 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 19059939 Detail
acute myeloid leukemia B Prognostic Does Not Support Better Outcome Somatic 3 16046528 Detail
acute myeloid leukemia Tretinoin B Predictive Supports Resistance Somatic 3 19965647 Detail
acute myeloid leukemia Tretinoin B Predictive Supports Sensitivity/Response Somatic 2 19059939 Detail
acute myeloid leukemia Daunorubicin B Predictive Supports Sensitivity/Response Somatic 2 22417203 Detail
acute myeloid leukemia Valproic Acid B Predictive Supports Sensitivity/Response Somatic 2 24797300 Detail
acute myeloid leukemia Tretinoin,NSC348884 D Predictive Supports Sensitivity/Response Somatic 3 21719597 Detail
acute myeloid leukemia Anti-CD33,Anti-CD123 E Predictive Supports Sensitivity/Response Somatic 2 24927407 Detail
acute myeloid leukemia Anti-CD33 E Predictive Supports Sensitivity/Response Somatic 2 24927407 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 4 17957027 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 19059939 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 16455956 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 5 16076867 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 15659725 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 2 22417203 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 19047294 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 4 24855211 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 22430270 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 18450602 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 4 20026798 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 16051734 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 2 19587375 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 24859829 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NPM1 mutations were not associated with the M3 acute myeloid leukemia FAB subtype (0/55). CIViC Evidence Detail
Peripheral blood from NPM1 mutated AMLs was assessed for NPM1 mutation status at multiple time point... CIViC Evidence Detail
NPM1 mutations were not associated with the M2 FAB subtype of acute myeloid leukemia. CIViC Evidence Detail
AML with mutated NPM1 is a provisional entity in the World Health Organization (WHO) classification ... CIViC Evidence Detail
NPM1 mutations were associated with de novo AML as well as M4 and M5 FAB subtypes. CIViC Evidence Detail
NPM1 mutations were associated with M4, M5a and M5b FAB subtypes of acute myeloid leukemia. CIViC Evidence Detail
NPM1 mutations were associated with M5a and M5b FAB subtypes of acute myeloid leukemia. CIViC Evidence Detail
NPM1 mutations were associated with normal karyotype in older (>60) patients. CIViC Evidence Detail
In normal karyotype patients with AML (15-65 years old), complete remission rates and overall, event... CIViC Evidence Detail
ATRA treatment did not effect overall survival in patients <60 years old with NPM1 mutation regardle... CIViC Evidence Detail
ATRA treatment improved overall and relapse-free survival in older (>60) patients with mutant NPM1 a... CIViC Evidence Detail
Young patients (18-60) with NPM1 mutations had improved overall survival following high-dose versus ... CIViC Evidence Detail
For patients with NPM1 mutation that achieved CR following induction therapy, relapse-free survival ... CIViC Evidence Detail
NSC348884 combined with ATRA treatment induces apoptosis in primary AML cells harboring mutant NPM1 ... CIViC Evidence Detail
CD33 and CD123 expression was significantly increased in patients with NPM1 mutation with FLT3-ITD, ... CIViC Evidence Detail
CD33 expression was significantly increased in patients with NPM1 mutation with or without FLT3-ITD,... CIViC Evidence Detail
NPM1 mutation without FLT3-ITD was associated with reduced relapse risk and increased overall surviv... CIViC Evidence Detail
Patients with NPM1 mutations were associated with improved complete remission rates as well as overa... CIViC Evidence Detail
Complete remission rates were higher (P<0.001) and both disease-free survival (N=205 vs 352, P=0.041... CIViC Evidence Detail
Complete remission rates were higher (70.5% vs 54.7%, P = 0.003) and event-free survival was longer ... CIViC Evidence Detail
Cytoplasmic localization of NPM in AML patients was an independent prognositic factor associated wit... CIViC Evidence Detail
Intermediate risk patients with mutant NPM1 had improved overall survival with the presence of eithe... CIViC Evidence Detail
Normal karyotype patients with NPM1 mutation and without FLT3-ITD had improved overall and relapse-f... CIViC Evidence Detail
NPM1 mutation (N=724) was associated with higher complete remission rates (92% vs 82%; P < 0.0001), ... CIViC Evidence Detail
NPM1 mutation was associated with increased overall, event-free and relapse-free survival and remiss... CIViC Evidence Detail
In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukem... CIViC Evidence Detail
NPM1 mutations were associated with increased complete remission rates as well as longer overall dis... CIViC Evidence Detail
Younger (16-60), normal karyotype AML patients with Exon 12 NPM1 mutation and without FLT3-ITD have ... CIViC Evidence Detail
Monitoring NPM1 mutation by cDNA-based RT-PCR effectively predicted relapse in 62/93 patients by >1 ... CIViC Evidence Detail
TET2 mutation reduces overall survival of normal karyotype patients with either an NPM1 mutation or ... CIViC Evidence 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
-
Genome
hg38
Position
chr5:171,410,527-171,410,565
Variant Type
snv
Transcript 1 (CIViC Variant)
ENST00000517671.1
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/86
Variant (CIViC) (CIViC Variant)
EXON 12 MUTATION
Summary (CIViC Variant)
NPM1 exon 12 mutations are frequently identified in patients with cytogenetically normal acute myeloid leukemia (AML) and often co-occur with FLT3-ITD. FLT3 status should also be evaluated as co-occurence with FLT3-ITD may impact prognosis. Exon 12 mutations have been identified as a predictor of good prognostic outcomes in the absence of FLT3-ITD. Due to their high frequency, NPM1 mutations have been retrospectively analyzed in the context of a number of therapies including variable results following ATRA treatment as well as improved response to high-dose daunorubicin or valproic acid. Additionally, multiple groups have shown increased surface expression of CD33 associated with NPM1 mutation, suggesting these patients may respond to anti-CD33 therapy. Cytoplasmic sequestration of NPM1 (NPM1c) is associated with a good response to induction therapy.
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