GENE REFERENCE / HGNC:6482

LAMA2

laminin subunit alpha 2

protein-coding gene6q22.33Gene information

What does this gene do?

The LAMA2 gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit. This subunit, together with the beta-1 and gamma-1 subunits, forms the laminin 2 protein, also known as merosin or laminin-211. The alpha-2 subunit, along with the beta-2 and gamma-1 subunits, also forms another laminin called laminin 4, sometimes known as laminin-221.

Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). There, the laminins help regulate cell growth, cell movement (motility), and the attachment of cells to one another (adhesion). They are also involved in the formation and organization of basement membranes, which are thin, sheet-like structures within the extracellular matrix that separate and support cells in many tissues. Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-09.

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
LAMA2-related muscular dystrophyMONDO:0100228 · Evaluated 2024-05-16	Autosomal recessive	DefinitiveCongenital Myopathies and Myasthenic Syndromes 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: 5,640
Submissions for variants in or overlapping this gene: 9,345
Submissions explicitly reporting this gene: 9,230
Alleles reported pathogenic / likely pathogenic: 1,175
VariationIDs with uncertain significance: 1,602
VariationIDs with conflicting classifications: 372

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 LAMA2?

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 1,175 alleles in LAMA2 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 LAMA2.

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

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