POLD1 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- POLD1 (HGNC:9175) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- DNA polymerase delta 1, catalytic subunit
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- POLD
- Alias symbols
- CDC2
- %HI
- 69.77(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.88(Read more about gnomAD LOEUF score)
- Cytoband
- 19q13.3
- Genomic Coordinates
-
GRCh37/hg19: chr19:50887580-50921275 NCBI Ensembl UCSC GRCh38/hg38: chr19:50384323-50418018 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002691.4 ENST00000440232.7 (Read more about MANE Select)
- Function
- As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair. Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200, PubMed:24022480). Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the a... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-28887
ClinGen Curation ID:
CCID:007691
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/05/2020
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Several studies (23263490; Palles et al. 2013
24501277; Valle et al 2014
25529843; Spier et al. 2015
25559809 ; Chubb et al. 2015
26133394; Bellido et al. 2016
26648449; Jansen et al. 2015
28306219; Ferrer et al. 2017) report association of missense mutations in POLD1 (mainly in the exonuclease domain) and early-onset colon cancer and/or colon polyposis. There is emerging evidence that some exonuclease domain missense mutations cause a drastic decrease in fidelity of exonuclease activity for POLD1. However, single gene deletions of POLD1, or deletions of exons and truncating mutations occurring outside the exonuclease domain, are not as commonly reported. Functional evidence of the impact of these mutations (other than missense exonuclease domain mutations) is sparse. POLD1 was scored based on secondary evidence seen in ClinVar, with >10 submissions of POLD1 displaying substantial, multi-exon or frameshift deletions reported in the disease of colorectal cancer. However, the interpretations are mainly Uncertain due to a lack of publications on deletions and variants outside the exonuclease domain.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence for triplosensitivity
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)