BBS10

Bardet-Biedl syndrome 10, the group of Chaperonins

Basic information

Region (hg38): 12:76344474-76348415

Previous symbols: [ "C12orf58" ]

Links

ENSG00000179941

∙ NCBI:79738 ∙ OMIM:610148 ∙ HGNC:26291 ∙ Uniprot:Q8TAM1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

Bardet-Biedl syndrome 10 (Definitive), mode of inheritance: AR
Bardet-Biedl syndrome 10 (Definitive), mode of inheritance: AR
Bardet-Biedl syndrome 10 (Strong), mode of inheritance: AR
Bardet-Biedl syndrome (Supportive), mode of inheritance: AR
Bardet-Biedl syndrome 10 (Strong), mode of inheritance: AR
ciliopathy (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bardet-Biedl syndrome 10	AR	Cardiovascular; Endocrine	Individuals have been described with congenital heart anomalies, and awareness may enable early diagnosis and management; Medical management of obesity with melanocortin-4 receptor (MC4R) agonist (setmelanotide) may be beneficial	Cardiovascular; Craniofacial; Gastrointestinal; Genitourinary; Endocrine; Musculoskeletal; Neurologic; Ophthalmologic; Renal	16823392; 16582908; 20120035; 20301537; 20805367; 22410627; 25982971; 36356613
Variants may modify the severity of BBS and related disorders due to variants in other BBS-associated genes

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BBS10 gene.

Bardet-Biedl_syndrome (722 variants)
Bardet-Biedl_syndrome_10 (421 variants)
BBS10-related_disorder (172 variants)
not_provided (73 variants)
Inborn_genetic_diseases (72 variants)
not_specified (34 variants)
Retinal_dystrophy (14 variants)
Bardet-Biedl_syndrome_1 (9 variants)
Retinitis_pigmentosa (2 variants)
BBS10-related_ciliopathy (2 variants)
Optic_atrophy (1 variants)
Asphyxiating_thoracic_dystrophy_3 (1 variants)
Intellectual_disability (1 variants)
Macular_degeneration (1 variants)
Bardet-biedl_syndrome_1/10,_digenic (1 variants)
Postaxial_hand_polydactyly (1 variants)
Foot_polydactyly (1 variants)
Bardet-biedl_syndrome_6/10,_digenic (1 variants)
High-frequency_hearing_impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BBS10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024685.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			15 clinvar	288 clinvar	3 clinvar	306
missense	5 clinvar	36 clinvar	367 clinvar	17 clinvar		425
nonsense	24 clinvar	32 clinvar	1 clinvar			57
start loss			3			3
frameshift	77 clinvar	88 clinvar	3 clinvar			168
splice donor/acceptor (+/-2bp)	1 clinvar	2 clinvar				3
Total	107	158	389	305	3

Highest pathogenic variant AF is 0.000927601

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BBS10	protein_coding	protein_coding	ENST00000393262	2	3969

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.75e-12	0.0584	125494	0	254	125748	0.00101

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0950	372	377	0.986	0.0000174	4727
Missense in Polyphen		59	80.978	0.72859		1056
Synonymous	-0.167	140	138	1.02	0.00000669	1422
Loss of Function	0.314	19	20.5	0.925	9.01e-7	313

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00109	0.00109
Ashkenazi Jewish	0.00149	0.00149
East Asian	0.000871	0.000870
Finnish	0.0000959	0.0000924
European (Non-Finnish)	0.00148	0.00148
Middle Eastern	0.000871	0.000870
South Asian	0.000786	0.000784
Other	0.000987	0.000978

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis (PubMed:20080638). Plays a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.;
Disease: DISEASE: Bardet-Biedl syndrome 10 (BBS10) [MIM:615987]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:16582908, ECO:0000269|PubMed:16823392, ECO:0000269|PubMed:20080638, ECO:0000269|PubMed:20120035, ECO:0000269|PubMed:21344540, ECO:0000269|PubMed:23219996, ECO:0000269|PubMed:28808579}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway: BBSome-mediated cargo-targeting to cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

pRec: 0.149

Intolerance Scores

loftool: 0.249
rvis_EVS: -0.35
rvis_percentile_EVS: 29.43

Haploinsufficiency Scores

pHI: 0.0985
hipred: N
hipred_score: 0.428
ghis: 0.548

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.00418

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Bbs10
Phenotype: renal/urinary system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype;

Zebrafish Information Network

Gene name: bbs10
Affected structure: pronephric proximal convoluted tubule
Phenotype tag: abnormal
Phenotype quality: morphology

Gene ontology

Biological process: retina homeostasis;visual perception;regulation of protein complex assembly;photoreceptor cell maintenance;response to stimulus;chaperone-mediated protein complex assembly;non-motile cilium assembly
Cellular component: cilium
Molecular function: RNA polymerase II repressing transcription factor binding;protein binding;ATP binding