TOMM70

Chr 3

translocase of outer mitochondrial membrane 70

Also known as: TOMM70A, Tom70

This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. The protein interacts with the SARS-CoV and SARS-Cov-2 ORF9b proteins. [provided by RefSeq, Dec 2021]

OMIMResearchGenerating clinical summary…
LOEUF 0.24
Clinical SummaryTOMM70
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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ClinVar Variants
12 VUS of 29 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.24LOEUF
pLI 0.998
Z-score 4.75
OE 0.09 (0.040.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.92Z-score
OE missense 0.70 (0.620.78)
221 obs / 317.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.09 (0.040.24)
00.351.4
Missense OE?0.70 (0.620.78)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 3 / 32.0Missense obs/exp: 221 / 317.0Syn Z: 0.86

ClinVar Variant Classifications

29 submitted variants in ClinVar

Classification Summary

VUS12
Likely Benign1
Benign2
12
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
2
10
0
0
12
Likely Benign
0
1
0
0
1
Benign
0
0
0
2
2
Total2110215

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

9 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap TOMM70 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TOMM70 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →