TOMM6

translocase of outer mitochondrial membrane 6, the group of Translocase of outer mitochondrial membrane complex

Basic information

Region (hg38): 6:41787661-41789898

Links

ENSG00000214736 ∙ NCBI:100188893 ∙ OMIM:616168 ∙ HGNC:34528 ∙ Uniprot:Q96B49 ∙ 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 TOMM6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOMM6 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in TOMM6

This is a list of pathogenic ClinVar variants found in the TOMM6 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41787719-G-T		not specified	Uncertain significance (May 05, 2023)
6-41787723-G-A		not specified	Likely benign (Jan 26, 2023)
6-41787757-A-G		not specified	Uncertain significance (Jun 22, 2023)
6-41787794-C-A		not specified	Uncertain significance (Jun 06, 2023)
6-41789302-C-G		not specified	Uncertain significance (Dec 16, 2022)
6-41789321-G-A		not specified	Uncertain significance (Jun 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TOMM6	protein_coding	protein_coding	ENST00000398884	2	2237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.194	0.659	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.651	31	43.0	0.721	0.00000193	478
Missense in Polyphen		3	8.3307	0.36011		126
Synonymous	-0.568	19	16.1	1.18	7.27e-7	154
Loss of Function	0.956	1	2.69	0.372	1.15e-7	28

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of proteins;Pink/Parkin Mediated Mitophagy;Mitophagy;Mitochondrial protein import (Consensus)

Intolerance Scores

• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.04

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tomm6

Gene ontology

• Biological process: protein transport
• Cellular component: mitochondrion;mitochondrial outer membrane;mitochondrial outer membrane translocase complex