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SEPT5-GP1BB

Chr 22

SEPT5-GP1BB readthrough

NCBI Gene: 100526833

This locus represents a naturally occurring read-through transcript between the SEPT5 and GP1BB genes that is subject to nonsense-mediated decay and unlikely to produce functional protein products. 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 SEPT5 (septin 5) and GP1BB (glycoprotein Ib (platelet), beta polypeptide) genes on chromosome 22. This read-through transcription arises from inefficient use of an imperfect polyA signal in the upstream SEPT5 gene, whereby transcription continues into the GP1BB gene. Alternative splicing results in multiple read-through variants. The read-through transcripts are candidates for nonsense-mediated mRNA decay (NMD), and are therefore unlikely to produce protein products. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Clinical Summary— SEPT5-GP1BB

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ClinVar Variants

46 unique Pathogenic / Likely Pathogenic· 122 VUS of 211 total submissions

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SEPT5-GP1BB?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

211 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10

Likely Pathogenic36

VUS122

Likely Benign35

Benign4

Conflicting4

Pathogenic

Likely Pathogenic

122

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	7	2	1	0	10
Likely Pathogenic	14	22	0	0	36
VUS	0	116	6	0	122
Likely Benign	2	5	4	24	35
Benign	0	3	1	0	4
Conflicting	—				4
Total	23	148	12	24	211

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

View in ClinVar →

187 pathogenic / likely-pathogenic (of 194) ClinVar copy-number / structural variants overlap SEPT5-GP1BB — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →