chr13:28592642:C>A Detail (hg19) (FLT3)

Information

Genome

Assembly Position
hg19 chr13:28,592,642-28,592,642
hg38 chr13:28,018,505-28,018,505 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004119.2:c.2503G>T NP_004110.2:p.Asp835Tyr
Ensemble ENST00000241453.12:c.2503G>T ENST00000241453.12:p.Asp835Tyr
Summary

MGeND

Clinical significance not provided
Variant entry 11
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 136351 OMIM
HGNC 3765 HGNC
Ensembl ENSG00000122025 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM783 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Acute myeloblastic leukaemia somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Myelodysplastic syndromes somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-03-30 no assertion criteria provided acute myeloid leukemia somatic Detail
Pathogenic 2004-05-01 no assertion criteria provided Acute lymphoid leukemia somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia Quizartinib,Ponatinib D Predictive Supports Resistance Somatic 3 23430109 Detail
acute myeloid leukemia SU5614 D Predictive Supports Resistance Somatic 3 19318574 Detail
acute myeloid leukemia Sorafenib,Quizartinib B Predictive Supports Resistance Somatic 4 22504184 Detail
acute myeloid leukemia Sorafenib B Predictive Supports Resistance Somatic 4 22368270 Detail
acute myeloid leukemia Midostaurin B Predictive Supports Sensitivity/Response Somatic 3 20733134 Detail
acute myeloid leukemia Sorafenib D Predictive Supports Resistance Somatic 1 23969938 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 17965322 Detail
acute myeloid leukemia B Diagnostic Does Not Support Positive Somatic 3 11290608 Detail
acute myeloid leukemia Sorafenib B Predictive Supports Resistance Somatic 4 22368270 Detail
acute myeloid leukemia Sorafenib B Predictive Supports Resistance Somatic 4 18230792 Detail
acute myeloid leukemia B Prognostic Does Not Support N/A Somatic 3 11290608 Detail
acute myeloid leukemia B Prognostic Supports Poor Outcome Somatic 4 17940205 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 Leukemia, Myelocytic, Acute NA CLINVAR Detail
0.130 Acute lymphocytic leukemia NA CLINVAR Detail
0.560 Leukemia, Myelocytic, Acute Our FLT3-Aurora kinase inhibitor, CCT137690, successfully inhibited growth of FL... BeFree 22354205 Detail
Annotation

Annotations

DescrptionSourceLinks
An in-vitro saturation mutagenesis screen of 50 independently derived FLT3-ITD clones was performed ... CIViC Evidence Detail
An in-vitro cell-based screening approach generated FLT3-ITD-expressing cell lines resistant to the ... CIViC Evidence Detail
In an in-vitro study using an in vitro saturation mutagenesis assay, 4 residues with AC220 (quizarti... CIViC Evidence Detail
13 patients with relapsed or chemo-refractory FLT3-ITD+ AML were treated with sorafenib (200-400 mg ... CIViC Evidence Detail
In a phase 2 clinical study of 95 AML/high-risk MDS patients treated with either 50 or 100 mg midost... CIViC Evidence Detail
Mouse Ba/F3 cells with FLT3 mutations were evaluated for sorafenib resistance. Cells with single FL... CIViC Evidence Detail
Event-free survival was significantly improved in patients with both NPM1 and FLT3-TKD mutations com... CIViC Evidence Detail
WBC counts were not significantly different in AML patients with FLT3 D835 mutations compared to wil... CIViC Evidence Detail
Emergence of D835 mutation in AML patients with FLT3 tandem repeat is associated with sorafenib resi... CIViC Evidence Detail
Sorafenib is effective in patients with FLT3 internal tandem repeat mutations, but not in patients w... CIViC Evidence Detail
AML patients with D835 mutation of FLT3 did not have worse overall survival than patients with wild ... CIViC Evidence Detail
In AML patients, FLT3-TKD mutation was associated with poorer disease free survival compared to pati... CIViC Evidence Detail
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) AND Acute myeloid leukemia ClinVar Detail
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) AND Acute lymphoid leukemia ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our FLT3-Aurora kinase inhibitor, CCT137690, successfully inhibited growth of FLT3-ITD-D835Y cells i... DisGeNET 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
rs121913488 dbSNP
Genome
hg19
Position
chr13:28,592,642-28,592,642
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
TKD MUTATION
Transcript 1 (CIViC Variant)
ENST00000241453.7
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/56
Summary (CIViC Variant)
FLT3 tyrosine kinase domain mutations (FLT3-TKD) are much less common than FLT3-ITD (internal tandem duplication) mutations and may not confer the same prognostic impact. Although the majority of mutations are point mutations effecting D835 (most frequently D835Y), a small proportion involve an in-frame deletion of I836. These mutations are within the activation loop of the second tyrosine kinase domain of FLT3 and thought to result in constitutive activation of the receptor.
Variant (CIViC) (CIViC Variant)
D835
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/437
Variant (CIViC) (CIViC Variant)
D835H/Y
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/613
Genome browser