HNRNPUL2-BSCL2

Chr 11

HNRNPUL2-BSCL2 readthrough (NMD candidate)

This locus represents a naturally occurring read-through transcript between the HNRNPUL2 and BSCL2 genes that is unlikely to produce a functional protein product. No disease associations have been established for this read-through transcript, as it appears to be subject to nonsense-mediated mRNA decay.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2) and BSCL2 (Berardinelli-Seip congenital lipodystrophy 2 (seipin)) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Clinical Summary— HNRNPUL2-BSCL2

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ClinVar Variants

63 unique Pathogenic / Likely Pathogenic· 432 VUS of 784 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

784 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic35

Likely Pathogenic28

VUS432

Likely Benign211

Benign17

Conflicting59

Pathogenic

Likely Pathogenic

432

VUS

211

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	31	3	1	0	35
Likely Pathogenic	25	3	0	0	28
VUS	13	392	20	7	432
Likely Benign	1	18	89	103	211
Benign	0	2	15	0	17
Conflicting	—				59
Total	70	418	125	110	782

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

View in ClinVar →

4 pathogenic / likely-pathogenic (of 7) ClinVar copy-number / structural variants overlap HNRNPUL2-BSCL2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →