TOMM34

translocase of outer mitochondrial membrane 34, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 20:44942129-44960397

Links

ENSG00000025772 ∙ NCBI:10953 ∙ OMIM:616049 ∙ HGNC:15746 ∙ Uniprot:Q15785 ∙ 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 TOMM34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOMM34 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in TOMM34

This is a list of pathogenic ClinVar variants found in the TOMM34 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-44943143-T-C		not specified	Uncertain significance (Feb 10, 2023)
20-44943479-G-A		not specified	Uncertain significance (Aug 10, 2023)
20-44948786-C-G		not specified	Uncertain significance (Aug 02, 2021)
20-44951869-T-C		not specified	Uncertain significance (Mar 14, 2024)
20-44951961-C-T		not specified	Uncertain significance (Jun 13, 2022)
20-44951979-G-A		not specified	Uncertain significance (May 30, 2023)
20-44955084-C-T		not specified	Uncertain significance (May 09, 2024)
20-44955179-C-T		not specified	Uncertain significance (Aug 08, 2023)
20-44955188-G-T		not specified	Uncertain significance (Apr 17, 2023)
20-44955212-G-A		not specified	Uncertain significance (Feb 10, 2023)
20-44956474-G-A		not specified	Uncertain significance (Oct 26, 2021)
20-44960327-G-A		not specified	Uncertain significance (Oct 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TOMM34	protein_coding	protein_coding	ENST00000372813	7	18357

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0145	0.980	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.22	120	164	0.732	0.00000845	1992
Missense in Polyphen		36	63.852	0.5638		733
Synonymous	0.790	57	65.1	0.875	0.00000343	594
Loss of Function	2.43	6	16.7	0.359	9.72e-7	198

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.000217	0.000217
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the import of cytosolically synthesized preproteins into mitochondria. Binds the mature portion of precursor proteins. Interacts with cellular components, and possesses weak ATPase activity. May be a chaperone-like protein that helps to keep newly synthesized precursors in an unfolded import compatible state. {ECO:0000269|PubMed:10101285, ECO:0000269|PubMed:11913975, ECO:0000269|PubMed:9324309}.

Recessive Scores

• pRec: 0.0905

Intolerance Scores

• loftool: 0.324
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.42

Haploinsufficiency Scores

• pHI: 0.0405
• hipred: Y
• hipred_score: 0.717
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tomm34
• Phenotype: normal phenotype

Gene ontology

• Biological process: protein targeting to mitochondrion
• Cellular component: nucleus;nucleoplasm;mitochondrial outer membrane;cytosol;membrane;integral component of membrane
• Molecular function: protein binding;heat shock protein binding