TBC1D3C

TBC1 domain family member 3C

Basic information

Region (hg38): 17:38057693-38068634

Links

ENSG00000278299 ∙ NCBI:414060 ∙ OMIM:610806 ∙ HGNC:24889 ∙ Uniprot:Q6IPX1 ∙ 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 TBC1D3C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBC1D3C 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			8	1		9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	8	2	0

Variants in TBC1D3C

This is a list of pathogenic ClinVar variants found in the TBC1D3C region.

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

Position	Type	Phenotype	Significance	ClinVar
17-38058139-C-T		not specified	Likely benign (Nov 08, 2021)
17-38058177-T-C		not specified	Uncertain significance (Oct 12, 2021)
17-38058219-A-G		not specified	Uncertain significance (Aug 23, 2021)
17-38058427-G-A		not specified	Uncertain significance (Aug 17, 2021)
17-38058463-G-A		not specified	Uncertain significance (Aug 17, 2021)
17-38058504-C-G		not specified	Uncertain significance (Oct 26, 2021)
17-38059672-G-A		not specified	Uncertain significance (Jul 06, 2021)
17-38061987-C-T		not specified	Uncertain significance (Jul 09, 2021)
17-38064347-G-G		not specified	Likely benign (Oct 18, 2021)
17-38066808-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.0768
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0205

Gene Damage Prediction

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

Gene ontology

• Biological process: intracellular protein transport;activation of GTPase activity
• Cellular component: plasma membrane
• Molecular function: GTPase activator activity;Rab GTPase binding