CHKB-CPT1B

Chr 22

CHKB-CPT1B readthrough (NMD candidate)

Also known as: CHKL-CPT1B, CPT1-M, CPT1B, CPTI-M

CHKB-CPT1B represents read-through transcripts from adjacent genes CHKB and CPT1B on chromosome 22 that are candidates for nonsense-mediated mRNA decay and unlikely to produce functional proteins. No disease associations have been established for this read-through transcript, as pathogenic variants would be expected to affect the individual CHKB or CPT1B genes rather than the read-through product.

ResearchSummary from RefSeq

The genes CHKB and CPT1B are adjacent on chromosome 22 and read-through transcripts are expressed that include exons from both loci. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to express proteins. [provided by RefSeq, Jun 2009]

ResearchGenerating clinical summary…

Clinical Summary— CHKB-CPT1B

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ClinVar Variants

43 unique Pathogenic / Likely Pathogenic· 308 VUS of 584 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

584 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic31

Likely Pathogenic12

VUS308

Likely Benign176

Benign29

Conflicting25

Pathogenic

Likely Pathogenic

308

VUS

176

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	29	1	1	0	31
Likely Pathogenic	12	0	0	0	12
VUS	5	284	16	3	308
Likely Benign	0	5	84	87	176
Benign	0	1	24	4	29
Conflicting	—				25
Total	46	291	125	94	581

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

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66 pathogenic / likely-pathogenic (of 73) ClinVar copy-number / structural variants overlap CHKB-CPT1B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →