POLE S459F
Gene Variant Detail

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Gene POLE
Variant S459F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions POLE S459F lies within the exonuclease domain of the Pole protein (PMID: 29352080). S459F results in loss of exonuclease activity in human cells (PMID: 25228659) and increased mutation rates in yeast assays compared to wild-type Pole (PMID: 29352080).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE inact mut POLE S459F

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Transcript NM_006231.4
gDNA chr12:g.132673261G>A
cDNA c.1376C>T
Protein p.S459F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006231.3 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534799 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
NM_006231 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534795 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38
XM_011534800 chr12:g.132673261G>A c.1376C>T p.S459F RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE S459F colorectal cancer predicted - sensitive Nivolumab Case Reports/Case Series Actionable In a Phase II trial, Opdivo (nivolumab) resulted in a durable partial response in a colorectal cancer patient harboring POLE S459F, along with high tumor mutational burden (PMID: 35398880; NCT03012581). 35398880
POLE S459F colorectal cancer predicted - sensitive Durvalumab Case Reports/Case Series Actionable In a retrospective study, treatment with immune checkpoint inhibitors resulted in an overall response rate of 89% (22/29) and a disease control rate of 92% in metastatic colorectal cancer patients harboring pathogenic POLE/POLD1 variants, including a complete response in a patient harboring POLE S459F treated with Imfinzi (durvalumab) (PMID: 38777726). 38777726