TBC1D22B

TBC1 domain family member 22B

Basic information

Region (hg38): 6:37257772-37332970

Previous symbols: [ "C6orf197" ]

Links

ENSG00000065491 ∙ NCBI:55633 ∙ OMIM:616880 ∙ HGNC:21602 ∙ Uniprot:Q9NU19 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TBC1D22B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBC1D22B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in TBC1D22B

This is a list of pathogenic ClinVar variants found in the TBC1D22B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-37257924-G-T		not specified	Uncertain significance (Sep 27, 2022)
6-37269623-C-T		not specified	Uncertain significance (Apr 15, 2024)
6-37279435-C-T		not specified	Uncertain significance (Dec 15, 2023)
6-37279527-C-T		not specified	Uncertain significance (Apr 26, 2024)
6-37279579-C-A		not specified	Uncertain significance (Feb 16, 2023)
6-37282238-C-T		not specified	Uncertain significance (Nov 10, 2022)
6-37282241-A-G		not specified	Uncertain significance (Feb 11, 2022)
6-37282277-G-A		not specified	Uncertain significance (Aug 02, 2021)
6-37282295-A-G		not specified	Uncertain significance (Jun 09, 2022)
6-37282314-C-A		not specified	Uncertain significance (May 23, 2023)
6-37282332-G-A		not specified	Uncertain significance (Dec 02, 2022)
6-37284337-G-T		not specified	Uncertain significance (Apr 23, 2024)
6-37284355-C-G		not specified	Uncertain significance (May 24, 2024)
6-37284381-C-T		not specified	Uncertain significance (Aug 30, 2022)
6-37284388-G-A		not specified	Uncertain significance (Jan 25, 2023)
6-37291336-G-C		not specified	Uncertain significance (Aug 21, 2023)
6-37312941-G-A		not specified	Uncertain significance (Jun 02, 2024)
6-37312968-C-G		not specified	Uncertain significance (Dec 14, 2022)
6-37316730-A-G		not specified	Uncertain significance (Jan 08, 2024)
6-37316810-C-T		not specified	Uncertain significance (Aug 08, 2023)
6-37317151-G-C		not specified	Uncertain significance (Nov 10, 2022)
6-37331053-A-C		not specified	Uncertain significance (Dec 14, 2022)
6-37331168-G-A		not specified	Uncertain significance (Jun 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TBC1D22B	protein_coding	protein_coding	ENST00000373491	13	75199

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0255	0.974	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.42	181	299	0.606	0.0000175	3335
Missense in Polyphen		46	106.43	0.43222		1185
Synonymous	0.732	100	110	0.911	0.00000602	951
Loss of Function	3.71	9	31.5	0.286	0.00000166	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000528	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.000132	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a GTPase-activating protein for Rab family protein(s). {ECO:0000250}.

Recessive Scores

• pRec: 0.0905

Intolerance Scores

• loftool: 0.378
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.37

Haploinsufficiency Scores

• pHI: 0.128
• hipred: Y
• hipred_score: 0.527
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.334

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tbc1d22b

Gene ontology

• Biological process: intracellular protein transport;activation of GTPase activity;regulation of cilium assembly
• Cellular component: cell
• Molecular function: GTPase activator activity;protein binding;Rab GTPase binding;14-3-3 protein binding