Gene Variant Detail

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Gene PIK3CA
Variant P447_L455del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions PIK3CA P447_L455del results in the deletion of nine amino acids in the C2 PI3K-type domain of the Pik3ca protein from amino acids 447 to 455 (UniProt.org). P447_L455del confers a gain of function to the Pik3ca protein as demonstrated by transformation in culture and activation of the PI3K/Akt/Mtor pathway via increased phosphorylation of Akt, Erk, P70S6K, and P90RSK (PMID: 21266528, PMID: 29284706).
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179210274_179210300del27
cDNA c.1340_1366del27
Protein p.P447_L455delPVPHGLEDL
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38
NM_006218 chr3:g.179210274_179210300del27 c.1340_1366del27 p.P447_L455delPVPHGLEDL RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA P447_L455del estrogen-receptor positive breast cancer predicted - sensitive Alpelisib + Letrozole Case Reports/Case Series Actionable In a clinical case study, a patient with estrogen-receptor positive breast cancer harboring PIK3CA P447_L455del demonstrated an 11 month sustained response to the combination therapy of Femara (letrozole) and Alpelisib (BYL719) (PMID: 29284706). 29284706