TRIM59-IFT80

TRIM59-IFT80 readthrough (NMD candidate)

Basic information

Region (hg38): 3:160227453-160449829

Links

ENSG00000248710 ∙ NCBI:100174949 ∙ ∙ HGNC:56756 ∙ ∙ ∙ 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 TRIM59-IFT80 gene.

• Jeune thoracic dystrophy (473 variants)
• Asphyxiating thoracic dystrophy 2 (105 variants)
• Inborn genetic diseases (87 variants)
• not provided (60 variants)
• Connective tissue disorder (15 variants)
• not specified (11 variants)
• Type IV short rib polydactyly syndrome (2 variants)
• Short-rib thoracic dysplasia 6 with or without polydactyly (1 variants)
• Short-rib thoracic dysplasia 10 with or without polydactyly (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM59-IFT80 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)	2	8	24	23	5	62
splice region						0
non coding	23	8	340	169	38	578
Total	25	16	364	192	43

Highest pathogenic variant AF is 0.0000263

Variants in TRIM59-IFT80

This is a list of pathogenic ClinVar variants found in the TRIM59-IFT80 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-160257160-G-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160257271-G-A		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257301-G-GTA		Jeune thoracic dystrophy	Uncertain significance (Jun 14, 2016)
3-160257303-A-G		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160257321-C-T		Asphyxiating thoracic dystrophy 2	Benign (Jan 13, 2018)
3-160257404-A-G		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160257415-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Apr 27, 2017)
3-160257436-A-G		Asphyxiating thoracic dystrophy 2	Likely benign (Jan 13, 2018)
3-160257581-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257588-T-A		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257638-A-G		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257681-C-A		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257728-T-G		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257733-A-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160257758-C-G		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257785-C-A		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160257848-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257866-G-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257974-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160257985-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160258108-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160258128-T-C		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)
3-160258206-C-T		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 12, 2018)
3-160258207-G-A		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 15, 2018)
3-160258395-C-G		Asphyxiating thoracic dystrophy 2	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP