GeneBe

TOMT

transmembrane O-methyltransferase

Basic information

Region (hg38): 11:72105924-72109596

Links

ENSG00000284844 ∙ NCBI:120356740 ∙ ∙ HGNC:55527 ∙ Uniprot:Q8WZ04 ∙ 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 TOMT gene.

  • not_provided (70 variants)
  • Autosomal_recessive_nonsyndromic_hearing_loss_63 (53 variants)
  • Inborn_genetic_diseases (45 variants)
  • not_specified (21 variants)
  • LRTOMT-related_disorder (7 variants)
  • Rare_genetic_deafness (2 variants)
  • Hearing_impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOMT gene is commonly pathogenic or not. These statistics are base on transcript: NM_001393500.2. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
4
clinvar
19
clinvar
 24
missense
3
clinvar
5
clinvar
75
clinvar
8
clinvar
1
clinvar
 92
nonsense
6
clinvar
1
clinvar
1
clinvar
 8
start loss
1
 1
frameshift
3
clinvar
3
clinvar
 6
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total 15 10 80 27 1

Highest pathogenic variant AF is 0.0000446779

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP