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Gene | PIK3CA |
Variant | I391M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA I391M lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). I391M demonstrates kinase activity similar to wild-type Pik3ca in one study (PMID: 20530683), but results in increased cell proliferation and cell viability as compared to wild-type Pik3ca in one of two different cell lines (PMID: 29533785), and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA I391M |
Transcript | NM_006218.4 |
gDNA | chr3:g.179209622A>G |
cDNA | c.1173A>G |
Protein | p.I391M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179209622A>G | c.1173A>G | p.I391M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA I391M | uterine cancer | predicted - sensitive | Sirolimus | Case Reports/Case Series | Actionable | In a clinical case study, a uterine cancer patient harboring PIK3CA I391M demonstrated stable disease when treated with Rapamune (sirolimus) (PMID: 28514312). | 28514312 |