UBE2F-SCLY

Chr 2

UBE2F-SCLY readthrough (NMD candidate)

This locus represents a naturally occurring read-through transcript between the UBE2F and SCLY genes that is unlikely to produce a functional protein product and is a candidate for nonsense-mediated mRNA decay. No disease associations have been established for this read-through transcript based on the available information.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring UBE2F (ubiquitin-conjugating enzyme E2F) and SCLY (selenocysteine lyase) genes on chromosome 2. The read-through transcript is a candidate for non-sense mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Clinical Summary— UBE2F-SCLY

📋

ClinVar Variants

114 VUS of 132 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

132 submitted variants in ClinVar

ClinVar

Classification Summary

VUS114

Likely Benign8

Benign6

114

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	111	3	0	114
Likely Benign	7	0	1	8
Benign	3	1	2	6
Total	121	4	3	128

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

View in ClinVar →

36 pathogenic / likely-pathogenic (of 37) ClinVar copy-number / structural variants overlap UBE2F-SCLY — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →