POLM

DNA polymerase mu, the group of DNA polymerases|MicroRNA protein coding host genes

Basic information

Region (hg38): 7:44072062-44082530

Links

ENSG00000122678 ∙ NCBI:27434 ∙ OMIM:606344 ∙ HGNC:9185 ∙ Uniprot:Q9NP87 ∙ 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 POLM gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLM 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				2		2
missense			35	5		40
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	35	7	1

Variants in POLM

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

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

Position	Type	Phenotype	Significance	ClinVar
7-44073307-T-C		not specified	Uncertain significance (Feb 03, 2025)
7-44073397-TC-T			Benign (Aug 14, 2018)
7-44073636-C-G		not specified	Uncertain significance (Dec 03, 2021)
7-44073687-G-A		not specified	Uncertain significance (May 17, 2023)
7-44073698-C-T		not specified	Uncertain significance (Dec 03, 2024)
7-44073699-G-A		not specified	Uncertain significance (Jan 04, 2024)
7-44073827-C-T		not specified	Likely benign (Oct 30, 2024)
7-44073854-C-T		not specified	Uncertain significance (Mar 17, 2023)
7-44073865-G-C		not specified	Uncertain significance (Dec 30, 2024)
7-44073898-G-C		not specified	Uncertain significance (Oct 05, 2023)
7-44073947-C-T		not specified	Uncertain significance (Dec 24, 2024)
7-44073973-C-G		not specified	Uncertain significance (Mar 01, 2025)
7-44074144-C-A		not specified	Uncertain significance (Jan 18, 2025)
7-44074145-G-A		not specified	Likely benign (Sep 23, 2023)
7-44074146-G-C		not specified	Uncertain significance (May 28, 2024)
7-44074150-A-G		not specified	Uncertain significance (Oct 07, 2024)
7-44074192-T-A		not specified	Uncertain significance (Sep 30, 2024)
7-44074408-C-T		not specified	Uncertain significance (Apr 12, 2023)
7-44074419-G-A		not specified	Uncertain significance (Feb 01, 2025)
7-44074426-T-C		not specified	Uncertain significance (Oct 17, 2024)
7-44074491-C-T		not specified	Uncertain significance (May 22, 2024)
7-44074492-G-A		not specified	Uncertain significance (Mar 25, 2024)
7-44074492-G-C		not specified	Uncertain significance (Jun 23, 2021)
7-44074501-G-A		not specified	Uncertain significance (Dec 31, 2024)
7-44076578-G-A		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLM	protein_coding	protein_coding	ENST00000242248	11	10294

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.62e-11	0.438	125585	0	163	125748	0.000648

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.191	283	292	0.969	0.0000178	3118
Missense in Polyphen		66	85.308	0.77366		969
Synonymous	0.983	108	122	0.887	0.00000718	1044
Loss of Function	1.15	19	25.2	0.753	0.00000135	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00209	0.00207
Ashkenazi Jewish	0.00	0.00
East Asian	0.00125	0.00109
Finnish	0.00	0.00
European (Non-Finnish)	0.000633	0.000624
Middle Eastern	0.00125	0.00109
South Asian	0.0000653	0.0000653
Other	0.00198	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. {ECO:0000269|PubMed:12640116, ECO:0000269|PubMed:12888504, ECO:0000269|PubMed:17483519, ECO:0000269|PubMed:17915942}.
• Pathway: 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)

Intolerance Scores

• loftool: 0.872
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Haploinsufficiency Scores

• pHI: 0.0434
• hipred: N
• hipred_score: 0.482
• ghis: 0.471

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.650

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Polm
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: double-strand break repair via nonhomologous end joining;DNA recombination;somatic hypermutation of immunoglobulin genes;B cell differentiation;DNA biosynthetic process
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA binding;DNA-directed DNA polymerase activity;protein binding;metal ion binding