POLM
protein-codingDNA polymerase mu, the group of DNA polymerases|MicroRNA protein coding host genes
Gene summary
Predicted to enable DNA-directed DNA polymerase activity. Predicted to be involved in double-strand break repair via nonhomologous end joining. Predicted to act upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~10.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to POLM variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_013284.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 1 | 3 | |||
| missense | 81 | 7 | 88 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 85 | 9 | 1 | 95 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_037416.1 | 11 | MANE Select | |
| Ensembl | ENSP00000242248.5 | 11 | MANE Select | |
| RefSeq | NP_001271259.1 | 9 | Standard | |
| RefSeq | NP_001271260.1 | 10 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Non-homologous end-joining - Homo sapiens (human)
- DNA Repair
- Nonhomologous End-Joining (NHEJ)
- DNA Double-Strand Break Repair
- Purine metabolism
Biological Process
- double-strand break repair via nonhomologous end joining
- DNA recombination
- somatic hypermutation of immunoglobulin genes
- B cell differentiation
- DNA biosynthetic process
Molecular Function
- DNA binding
- DNA-directed DNA polymerase activity
- protein binding
- metal ion binding
Cellular Component
- nucleus
- nucleoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000242248
- Coding exons
- 11
- Length
- 10294
- Individuals with no LoFs
- 125585
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 163
- Defined
- 125748
- p
- 0.000648
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.191 | 283 | 292 | 0.969 | 0.0000178 | 3118 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00076 | 0.00074 | rare |
| Latino/Admixed American | 0.0013 | 0.0013 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0013 | 0.0011 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00063 | 0.00062 | rare |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0.0020 | 0.0020 | notable |
dbNSFP Gene Annotations
Source:
- 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}.;
Intolerance Scores
- LoFtool
- 0.872
- RVIS EVS
- -0.02
- RVIS percentile EVS
- 52.09
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.650
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |