GENE REFERENCE / HGNC:6637

LMNB1

lamin B1

protein-coding gene5q23.2Gene information

What does this gene do?

The LMNB1 gene provides instructions for making the lamin B1 protein. Lamin B1 is a structural protein called an intermediate filament protein. Intermediate filaments provide stability and strength to cells. Lamin B1 is a scaffolding (supporting) component of the nuclear envelope, which is the structure that surrounds the nucleus in cells. Specifically, this protein is located in the nuclear lamina, a mesh-like layer of intermediate filaments and other proteins that is attached to the inner membrane of the nuclear envelope. As part of the nuclear envelope, lamin B1 helps regulate the movement of molecules into and out of the nucleus. The protein also plays a role in the copying (replication) of DNA in preparation for cell division and the activity (expression) of many genes by being involved in the organization of chromosomes within the nucleus.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2016-09.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
microcephaly 26, primary, autosomal dominantMONDO:0030928 · Evaluated 2026-01-22	Autosomal dominant	DefinitiveLeukodystrophy and Leukoencephalopathy Gene Curation Expert Panel

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: 389
Submissions for variants in or overlapping this gene: 568
Submissions explicitly reporting this gene: 514
Alleles reported pathogenic / likely pathogenic: 13
VariationIDs with uncertain significance: 196
VariationIDs with conflicting classifications: 20

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 LMNB1?

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. ClinVar lists 13 alleles in LMNB1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

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 LMNB1.

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

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