TOMM22-DT

TOMM22 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 22:38667585-38681871

Links

ENSG00000228274 ∙ NCBI:124905117 ∙ ∙ HGNC:56758 ∙ ∙ ∙ 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 TOMM22-DT gene.

• Familial aplasia of the vermis (2 variants)
• Inborn genetic diseases (2 variants)
• Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOMM22-DT 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	2		3			5
Total	2	0	3	0	0

Highest pathogenic variant AF is 0.0000197

Variants in TOMM22-DT

This is a list of pathogenic ClinVar variants found in the TOMM22-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
22-38668022-G-A		Inborn genetic diseases	Uncertain significance (Jul 06, 2021)
22-38668111-A-ATC		Familial aplasia of the vermis	Pathogenic (Jan 01, 2018)
22-38670951-G-A		Inborn genetic diseases	Uncertain significance (Sep 01, 2021)
22-38671072-A-G		Inborn genetic diseases	Uncertain significance (Apr 22, 2024)
22-38671073-CAG-C		Familial aplasia of the vermis	Pathogenic (Jan 01, 2020)
22-38673201-C-G		Malignant tumor of prostate	Uncertain significance (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP