GENE REFERENCE / HGNC:9113

PML

PML nuclear body scaffold

protein-coding gene15q24.1Gene information

What does this gene do?

The PML gene provides instructions for a protein that acts as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The PML protein is found in distinct structures in the nucleus of a cell called PML nuclear bodies (PML-NBs). In the PML-NBs, the PML protein interacts with other proteins that are involved in cell growth and division (proliferation) and self-destruction (apoptosis). The PML protein is able to block cell proliferation and induce apoptosis in combination with other proteins. Researchers believe that the structure of the PML-NBs is required for blocking proliferation and inducing apoptosis.

Source: MedlinePlus, National Library of Medicine. Source publication: 2022-07-01. Source review: 2011-04.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 190
Submissions for variants in or overlapping this gene: 205
Submissions explicitly reporting this gene: 166
Alleles reported pathogenic / likely pathogenic: Not reported
VariationIDs with uncertain significance: 112
VariationIDs with conflicting classifications: 0

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PML?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PML.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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