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Gene POLE
Variant A456P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLE A456P lies within the exonuclease domain of the Pole protein (PMID: 29352080). A456P has been identified in the scientific literature (PMID: 31829442, PMID: 31624068, PMID: 34910396), but has not been biochemically characterized, and therefore, its effect on Pole protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE A456P

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Transcript NM_006231.4
gDNA chr12:g.132673271C>G
cDNA c.1366G>C
Protein p.A456P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534795.4 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534802.3 chr12:g.132643473C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534800 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534799 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534795 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534802.4 chr12:g.132643473C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534802 chr12:g.132643473C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
NM_006231 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE mutant Advanced Solid Tumor predicted - sensitive unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
POLE mutant Advanced Solid Tumor predicted - sensitive unspecified CTLA4 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
POLE mutant Advanced Solid Tumor predicted - sensitive unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061