GENE REFERENCE / HGNC:26291

BBS10

Bardet-Biedl syndrome 10

protein-coding gene12q21.2Gene information

What does this gene do?

The BBS10 gene provides instructions for making a protein that is found in many types of cells. The BBS10 protein is part of a group (complex) of proteins that functions as a chaperonin. Chaperonins help fold other proteins into their correct 3-dimensional shapes so they can perform their usual functions in the body.

Studies suggest that the BBS10 protein helps fold or stabilize certain proteins that are necessary for the normal formation of cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell).

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2010-05.

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
BBS10-related ciliopathyMONDO:0700237 · Evaluated 2023-08-03	Autosomal recessive	DefinitiveRetina 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: 1,122
Submissions for variants in or overlapping this gene: 2,159
Submissions explicitly reporting this gene: 2,108
Alleles reported pathogenic / likely pathogenic: 276
VariationIDs with uncertain significance: 449
VariationIDs with conflicting classifications: 53

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 BBS10?

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 276 alleles in BBS10 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 BBS10.

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

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