chr2:25457241:> Detail (hg19) (DNMT3A)

Information

Genome

Assembly Position
hg19 chr2:25,457,241-25,457,243
hg38 chr2:25,234,372-25,234,374 

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 Daunorubicin B Predictive Does Not Support Resistance Somatic 4 22081665 Detail
acute myeloid leukemia B Diagnostic Supports Negative Somatic 3 23632886 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 5 21067377 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 4 21067377 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 23632886 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 23632886 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 4 22291079 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 23632886 Detail
acute myeloid leukemia Idarubicin B Predictive Supports Sensitivity/Response Somatic 4 22081665 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 22490330 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 22291079 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 22490330 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 4 22081665 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 21067377 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 2 22081665 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 24512939 Detail
acute myeloid leukemia B Diagnostic Supports Positive Somatic 3 22490330 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 3 23632886 Detail
acute myeloid leukemia B Prognostic Does Not Support Poor Outcome Somatic 3 23632886 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 4 22490330 Detail
acute myeloid leukemia A Prognostic Supports Poor Outcome Somatic 3 23632886 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 5 21067377 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 23632886 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 5 21067377 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 5 24512939 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 22291079 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 22490330 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 22291079 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Daunorubicin treatment resulted in similar overall survival and disease free survival in de novo AML... CIViC Evidence Detail
Therapy-related AML was less common in patients with DNMT3A mutations (64.5% of which were R882) tha... CIViC Evidence Detail
DNMT3A mutations (59% of which were R882) were associated with an intermediate risk cytogenetic prof... CIViC Evidence Detail
DNMT3A mutations (59% of which were R882) were associated with intermediate risk cytogenetics (inclu... CIViC Evidence Detail
DNMT3A mutations (64.5% R882) were associated with older age, higher white blood cell count and cyto... CIViC Evidence Detail
DNMT3A R882 mutations were associated with cytogenetically normal AML in a large cohort of younger (... CIViC Evidence Detail
Complete remission rates did not differ between patients with wildtype or mutant DNMT3A (62% of whic... CIViC Evidence Detail
DNMT3A mutations were associated with achievement of complete remission in a large cohort of younger... CIViC Evidence Detail
Idarubicin increases the overall survival and disease free survival in de novo AML patients with DNM... CIViC Evidence Detail
Complete remission rate was not different between young AML patients (<60 years old) with or without... CIViC Evidence Detail
DNMT3A mutations (62% of which were R882) were associated with reduced disease-free survival in pati... CIViC Evidence Detail
Young AML patients (415 patients; <60 years old) with DNMT3A R882 mutations (n=58) have shorter over... CIViC Evidence Detail
There is no difference in the complete remission rate of de novo AML patients with DNMT3A mutation c... CIViC Evidence Detail
De novo AML patients with DNMT3A D882 mutation showed worse survival (event-free and overall) outcom... CIViC Evidence Detail
DNMT3A R882 mutations occur most often in de novo AML patients with intermediate risk cytogenetics (... CIViC Evidence Detail
DNMT3A R882 mutations were associated with older age, higher white blood cell count, and FAB M4 and ... CIViC Evidence Detail
Young AML patients (<60 years old) with DNMT3A mutations (60% of which were R882) were older in age,... CIViC Evidence Detail
In a large cohort of AML patients (mean = 48 years), DNMT3A mutation (64.5% of which were R882) had ... CIViC Evidence Detail
In a large cohort (n=1770) of AML patients (18-60 years old), DNMT3A mutation status (65.4% of which... CIViC Evidence Detail
In young AML patients (<60 years old), DNMT3A mutation status (60% of which were R882) was not predi... CIViC Evidence Detail
In a large cohort of young AML patients (18-60 years old), DNMT3A R882 mutations were associated wit... CIViC Evidence Detail
AML patients with DNMT3A mutations (59% of which were R882) showed worse survival (event-free and ov... CIViC Evidence Detail
DNMT3A R882 mutation was associated with reduced relapse free and overall survival in ELN-unfavorabl... CIViC Evidence Detail
In AML patients with FLT3-ITD mutations, concurrent DNMT3A mutations (including R882) were associate... CIViC Evidence Detail
In cytogenetically normal AML patients, DNMT3A R882 mutations are associated with lower overall and ... CIViC Evidence Detail
In older cytogenetically normal AML patients (>59 years), DNMT3A R882 mutation is prognostic for sho... CIViC Evidence Detail
In young AML patients (<60 years old), DNMT3A mutations were associated with significantly reduced o... CIViC Evidence Detail
In younger cytogenetically normal AML patients (<60 years), DNMT3A mutations other than R882 are pro... 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
hg19
Position
chr2:25,457,241-25,457,243
Variant Type
snv
Variant (CIViC) (CIViC Variant)
R882
Transcript 1 (CIViC Variant)
ENST00000264709.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/32
Summary (CIViC Variant)
DNMT3A R882 mutations are associated with cytogenetically normal acute myeloid leukemia (CN-AML) with R882H as the most common form. Mutations in DNMT3A have largely been associated with poorer prognosis, however this is not consistent across all studies. This may be a result of patient age or combining R882 and non-R882 mutations during analysis as studies have indicated independent mechanisms of action and differential prognostic implications for these mutation types. One study that independently analyzed R882 and non-R882 mutations showed R882 mutations were associated with poorer prognosis than patients with wildtype and non-R882 mutations, but only in older patients with AML.
Variant (CIViC) (CIViC Variant)
R882P
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1124
Variant (CIViC) (CIViC Variant)
R882H
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1125
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