GENE REFERENCE / HGNC:2201

COL3A1

collagen type III alpha 1 chain

protein-coding gene2q32.2Gene information

What does this gene do?

The COL3A1 gene provides instructions for making type III collagen. Collagens are a family of proteins that strengthen and support many tissues in the body. Type III collagen is found in the skin, lungs, intestinal walls, and the walls of blood vessels.

The components of type III collagen, called pro-α1(III) chains, are produced from the COL3A1 gene. Each molecule of type III procollagen is made up of three copies of this chain.

The triple-stranded, rope-like procollagen molecules are processed by enzymes outside the cell to create mature type III collagen. The collagen molecules then arrange themselves into long, thin fibrils that form stable interactions (cross-links) with one another and with other types of collagen in the spaces between cells. The cross-links result in the formation of very strong collagen fibers.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-11.

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
Ehlers-Danlos syndrome, vascular typeMONDO:0017314 · Evaluated 2019-02-27	Autosomal dominant	DefinitiveGeneral 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: 4,062
Submissions for variants in or overlapping this gene: 8,227
Submissions explicitly reporting this gene: 8,142
Alleles reported pathogenic / likely pathogenic: 993
VariationIDs with uncertain significance: 1,393
VariationIDs with conflicting classifications: 208

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 COL3A1?

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 993 alleles in COL3A1 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 COL3A1.

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

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