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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_011534799 chr12:g.132673271C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534795.3 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
XM_011534802.4 chr12:g.132643473C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
NM_006231.3 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_011534802.3 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_011534802 chr12:g.132643473C>G c.1366G>C p.A456P RefSeq GRCh38/hg38
XM_011534795.4 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
XM_011534800 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
XM_011534799.3 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 A456P colorectal cancer predicted - sensitive Ipilimumab + Nivolumab 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 partial response in a patient harboring POLE A456P treated with the combination of Yervoy (ipilimumab) and Opdivo (nivolumab) (PMID: 38777726). 38777726
POLE A456P colorectal cancer predicted - sensitive Pembrolizumab 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 partial response in a patient harboring POLE A456P treated with Keytruda (pembrolizumab) (PMID: 38777726). 38777726