CCND3 LOSS Detail (hg38) (CCND3)

Information

Genome

Assembly Position
hg19 chr6:41,902,671-41,909,586 View the variant detail on this assembly version.
hg38 chr6:41,934,933-41,941,848
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 123834 OMIM
HGNC 1585 HGNC
Ensembl ENSG00000112576 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
obsolete T-cell lymphoblastic leukemia/lymphoma Palbociclib D Predictive Supports Sensitivity/Response Somatic 3 23079656 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Treatment of Notch-driven T-cell leukemia in Ccnd3 knockout mice with Palbociclib (PD-0332991) signi... 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
CCND3
Genome
hg38
Position
chr6:41,934,933-41,941,848
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
LOSS
Transcript 1 (CIViC Variant)
ENST00000372991.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/23
Summary (CIViC Variant)
Cyclin D has been shown in many cancer types to be misregulated. Well established for their oncogenic properties, the cyclins and the cyclin-dependent kinases (CDK's) they activate have been the focus of major research and development efforts over the past decade. The methods by which the cyclins are deregulated are widely variable, and range from genomic amplification to promoter methylation changes. Cyclin D3 loss has been reported in T-cell acute lymphoblastic leukemia (T-ALL), a seemingly unique trend when compared to the amplifcations and overexpressions of the other cyclin D's. Treating cyclin D3 knockout mice with the targeted therapeutic palbociclib significantly increased the median survival of a Notch-driven model of T-ALL.
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