TRIM59-IFT80

Chr 3

TRIM59-IFT80 readthrough (NMD candidate)

Also known as: IFT80-L

This locus represents naturally occurring readthrough transcription between the neighboring TRIM59 (tripartite motif containing 59) and IFT80 (intraflagellar transport 80) genes on chromosome 3. The readthrough transcript is unlikely to produce a protein product. [provided by RefSeq, Jun 2017]

Research

ResearchGenerating clinical summary…

Clinical Summary— TRIM59-IFT80

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ClinVar Variants

64 unique Pathogenic / Likely Pathogenic· 555 VUS of 988 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

988 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic33

Likely Pathogenic31

VUS555

Likely Benign243

Benign44

Conflicting34

Pathogenic

Likely Pathogenic

555

VUS

243

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	30	2	1	0	33
Likely Pathogenic	26	5	0	0	31
VUS	6	498	42	9	555
Likely Benign	0	12	127	104	243
Benign	0	3	37	4	44
Conflicting	—				34
Total	62	520	207	117	940

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

View in ClinVar →

8 pathogenic / likely-pathogenic (of 9) ClinVar copy-number / structural variants overlap TRIM59-IFT80 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →