P3R3URF-PIK3R3

Chr 1

P3R3URF-PIK3R3 readthrough

Also known as: LOC110117498-PIK3R3

This locus represents a naturally occurring readthrough transcript between neighboring genes that encodes a fusion protein sharing sequence identity with the individual gene products. No established disease associations or inheritance patterns have been documented for this readthrough transcript. The clinical significance of this fusion protein remains unknown.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring genes LOC110117498 and PIK3R3. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]

ResearchGenerating clinical summary…

Clinical Summary— P3R3URF-PIK3R3

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ClinVar Variants

49 VUS of 62 total submissions

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Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

VUS49

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	0	49	0	49
Likely Benign	1	0	1	2
Benign	0	0	0	0
Total	1	49	1	51

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

View in ClinVar →

1 pathogenic / likely-pathogenic (of 4) ClinVar copy-number / structural variants overlap P3R3URF-PIK3R3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →