HSPB2-C11ORF52

Chr 11

HSPB2-C11orf52 readthrough (NMD candidate)

Also known as: C11orf52

This locus represents a read-through transcript between the HSPB2 and C11orf52 genes that is unlikely to produce a functional protein product due to nonsense-mediated mRNA decay. No disease associations have been established for this transcriptional read-through product.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring heat shock 27kDa protein 2 (HSPB2) and chromosome 11 open reading frame 52 (C11orf52) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) based on the use of the supported HSPB2 translational start codon, and it is therefore unlikely to produce a protein product. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Clinical Summary— HSPB2-C11ORF52

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ClinVar Variants

26 VUS of 29 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

29 submitted variants in ClinVar

ClinVar

Classification Summary

VUS26

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	1	25	26
Likely Benign	0	2	2
Benign	0	0	0
Total	1	27	28

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

View in ClinVar →

1 pathogenic / likely-pathogenic (of 2) ClinVar copy-number / structural variants overlap HSPB2-C11ORF52 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →