Annotation Detail

Information
Associated Genes
TP53
Associated Variants
TP53 p.Arg248Trp (p.R248W) ( ENST00000576024.2, ENST00000510385.5, ENST00000269305.9, ENST00000604348.6, ENST00000504937.5, ENST00000359597.8, ENST00000714409.1, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1 )
TP53 p.Arg248Trp (p.R248W) ( ENST00000269305.9, ENST00000359597.8, ENST00000413465.6, ENST00000420246.6, ENST00000445888.6, ENST00000455263.6, ENST00000504290.5, ENST00000504937.5, ENST00000510385.5, ENST00000576024.2, ENST00000604348.6, ENST00000610292.4, ENST00000610538.4, ENST00000610623.4, ENST00000618944.4, ENST00000619186.4, ENST00000619485.4, ENST00000620739.4, ENST00000622645.4, ENST00000714356.1, ENST00000714357.1, ENST00000714359.1, ENST00000714408.1, ENST00000714409.1 )
Associated Disease
cancer
Source Database
CIViC Evidence
Description
Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 115 cancer cell lines with TP53 mutation and absence of WT allele are sensitive to MDM2 Inhibitor. TP53 R248W loss of function mutation is present in 4 cell lines and all are insensitive to MDM2 Inhibitor AMGMDS3.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4879
Gene URL
https://civic.genome.wustl.edu/links/genes/45
Variant URL
https://civic.genome.wustl.edu/links/variants/118
Rating
4
Evidence Type
Predictive
Disease
Cancer
Evidence Direction
Supports
Drug
AMGMDS3
Evidence Level
D
Clinical Significance
Resistance
Pubmed
25730903
Drugs
Drug NameSensitivitySupported
AMGMDS3Resitance or Non-Reponsetrue