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Gene | PTEN |
Variant | D92H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D92H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92H confers a loss of Pten protein function as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076, PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D92H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933033G>C |
cDNA | c.274G>C |
Protein | p.D92H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933033G>C | c.274G>C | p.D92H | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933033G>C | c.274G>C | p.D92H | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933033G>C | c.274G>C | p.D92H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN D92H PTEN F278Lfs*12 | breast cancer | sensitive | MEN1611 | Preclinical - Cell culture | Actionable | In a preclinical study, MEN1611 (CH5132799) inhibited viability in a breast cancer cell line harboring PTEN D92H and F278Lfs*12 in culture (PMID: 36913051). | 36913051 |