chr2:25232976:> Detail (hg38) (DNMT3A)

Information

Genome

Assembly Position
hg19 chr2:25,455,845-25,565,459 
hg38 chr2:25,232,976-25,342,590

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
myelodysplastic syndrome B Prognostic Supports Poor Outcome Somatic 3 21415852 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 27288520 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 27276561 Detail
acute myeloid leukemia Decitabine B Predictive Supports Sensitivity/Response Somatic 3 22124213 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 3 22490330 Detail
cancer Pembrolizumab,Nivolumab,Atezolizumab B Predictive Supports Resistance Somatic 2 28351930 Detail
T-cell acute lymphoblastic leukemia B Prognostic Supports Poor Outcome Somatic 4 23341344 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
12/150 patients with de novo myelodysplastic syndrome screened for DNMT3A mutations (bone marrow and... CIViC Evidence Detail
In AML patients aged <60years, presence of a DNMT3A mutation associated with inferior CR rate (HR, 0... CIViC Evidence Detail
DNMT3A mutations associate with adverse overall survival in acute myeloid leukemia patients if they ... CIViC Evidence Detail
Among 46 AML patients treated with decitabine, the response rate was 75% (6/8) among DNMT3A mutated ... CIViC Evidence Detail
Young AML patients (415 patients; <60 years old) with any DNMT3A mutation (n=96) have shorter overal... CIViC Evidence Detail
A subset of patients receiving PD1/PD-L1 inhibition appear to be "hyper-progressors," with a greatly... CIViC Evidence Detail
In adult patients with early (n = 30), cortical (n = 30), mature (n = 3) or unknown (n = 8) T-cell a... 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
chr2:25,232,976-25,342,590
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000264709.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/189
Summary (CIViC Variant)
DNMT3A mutations occur in a variety of myeloid malignancies. These mutations are associated with adverse prognosis in acute myeloid leukemia (AML), particularly in the context of NPM1 and FLT3-ITD mutations, which often co-occur. Early results indicate AML patients with DNMT3A mutations may respond better to decitabine than those with wild-type. Shorter survival has been indicated in patients with T-cell acute lymphoblastic leukemia and myelodysplastic syndrome, however, larger cohorts are required to verify this finding. DNMT3A mutations have been suggested as a pre-leukemic lesion and found in older individuals with clonal hematopoiesis but no overt malignancy.
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