GENE REFERENCE / HGNC:2207

COL4A5

collagen type IV alpha 5 chain

protein-coding geneXq22.3Gene information

What does this gene do?

The COL4A5 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha5(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha3 and alpha4 chains) to make alpha345(IV) collagen molecules. These molecules attach to each other to form complex protein networks that make up a large portion of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Alpha345(IV) collagen networks play an especially important role in the basement membranes of the kidney, inner ear, and eye.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-09-05. Source review: 2023-09.

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
Alport syndromeMONDO:0018965 · Evaluated 2019-03-19	X-linked	DefinitiveHearing Loss 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: 3,863
Submissions for variants in or overlapping this gene: 5,826
Submissions explicitly reporting this gene: 5,456
Alleles reported pathogenic / likely pathogenic: 1,620
VariationIDs with uncertain significance: 629
VariationIDs with conflicting classifications: 151

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 COL4A5?

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 1,620 alleles in COL4A5 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 COL4A5.

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

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