POLL

DNA polymerase lambda, the group of DNA polymerases

Basic information

Region (hg38): 10:101578881-101588270

Links

ENSG00000166169 ∙ NCBI:27343 ∙ OMIM:606343 ∙ HGNC:9184 ∙ Uniprot:Q9UGP5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLL gene.

• Inborn genetic diseases (30 variants)
• not provided (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLL gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			29	1	2	32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					8	8
Total	0	0	29	1	11

Variants in POLL

This is a list of pathogenic ClinVar variants found in the POLL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-101579385-G-A			Benign (May 15, 2021)
10-101579569-G-A		not specified	Uncertain significance (Nov 08, 2022)
10-101579577-G-A		not specified	Uncertain significance (Nov 21, 2022)
10-101579635-T-C		not specified	Uncertain significance (Jul 14, 2021)
10-101579641-G-A		not specified	Uncertain significance (Feb 27, 2024)
10-101579649-T-C		not specified	Uncertain significance (Jan 04, 2024)
10-101579671-G-A		not specified	Uncertain significance (May 06, 2022)
10-101579690-G-T		POLL-related disorder	Likely benign (Feb 10, 2022)
10-101579710-T-C		POLL-related disorder	Likely benign (Jul 30, 2023)
10-101579721-C-T		not specified	Uncertain significance (Aug 12, 2021)
10-101579728-G-A		not specified	Uncertain significance (Oct 12, 2022)
10-101579731-G-A		not specified	Likely benign (May 11, 2022)
10-101579749-G-A		not specified	Uncertain significance (Feb 06, 2024)
10-101579770-G-C		not specified	Uncertain significance (Dec 05, 2022)
10-101579778-C-T		not specified	Uncertain significance (May 23, 2023)
10-101580253-T-C		not specified	Uncertain significance (Jan 09, 2024)
10-101580257-G-A		not specified	Uncertain significance (Oct 27, 2023)
10-101580286-C-G		not specified	Uncertain significance (Nov 09, 2021)
10-101580290-G-A		not specified	Uncertain significance (Aug 17, 2021)
10-101580299-G-A			Benign (May 04, 2021)
10-101580302-C-T		not specified	Uncertain significance (Nov 05, 2021)
10-101580324-G-A			Likely benign (Feb 01, 2024)
10-101580326-C-T		not specified	Uncertain significance (Jul 20, 2021)
10-101580374-C-T		not specified	Uncertain significance (Jan 26, 2022)
10-101580387-A-G			Benign (May 04, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLL	protein_coding	protein_coding	ENST00000370162	8	9389

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.58e-10	0.591	125612	0	136	125748	0.000541

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.545	309	337	0.916	0.0000197	3717
Missense in Polyphen		102	115.22	0.88525		1172
Synonymous	0.199	125	128	0.978	0.00000648	1204
Loss of Function	1.33	19	26.4	0.720	0.00000165	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00166	0.00166
Ashkenazi Jewish	0.00	0.00
East Asian	0.00131	0.00131
Finnish	0.000327	0.000323
European (Non-Finnish)	0.000363	0.000360
Middle Eastern	0.00131	0.00131
South Asian	0.000627	0.000621
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA polymerase that functions in several pathways of DNA repair (PubMed:11457865, PubMed:19806195, PubMed:20693240). Involved in base excision repair (BER) responsible for repair of lesions that give rise to abasic (AP) sites in DNA (PubMed:11457865, PubMed:19806195). Also contributes to DNA double-strand break repair by non-homologous end joining and homologous recombination (PubMed:19806195, PubMed:20693240). Has both template-dependent and template-independent (terminal transferase) DNA polymerase activities (PubMed:10982892, PubMed:10887191, PubMed:12809503, PubMed:14627824, PubMed:15537631, PubMed:19806195). Has also a 5'-deoxyribose-5- phosphate lyase (dRP lyase) activity (PubMed:11457865, PubMed:19806195). {ECO:0000269|PubMed:10887191, ECO:0000269|PubMed:10982892, ECO:0000269|PubMed:11457865, ECO:0000269|PubMed:12809503, ECO:0000269|PubMed:14627824, ECO:0000269|PubMed:15537631, ECO:0000269|PubMed:19806195, ECO:0000269|PubMed:20693240}.
• Pathway: Base excision repair - Homo sapiens (human);Non-homologous end-joining - Homo sapiens (human);DNA Repair;Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;Purine metabolism;Pyrimidine metabolism;DNA-PK pathway in nonhomologous end joining (Consensus)

Recessive Scores

• pRec: 0.0933

Intolerance Scores

• loftool: 0.993
• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.98

Haploinsufficiency Scores

• pHI: 0.630
• hipred: Y
• hipred_score: 0.575
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.970

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Poll
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: double-strand break repair via homologous recombination;DNA replication;base-excision repair, gap-filling;nucleotide-excision repair;double-strand break repair via nonhomologous end joining;somatic hypermutation of immunoglobulin genes;DNA biosynthetic process
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA binding;DNA-directed DNA polymerase activity;metal ion binding;5'-deoxyribose-5-phosphate lyase activity