P3R3URF-PIK3R3

P3R3URF-PIK3R3 readthrough

Basic information

Region (hg38): 1:46043660-46176488

Links

ENSG00000278139 ∙ NCBI:110117499 ∙ ∙ HGNC:54999 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the P3R3URF-PIK3R3 gene.

• Inborn genetic diseases (10 variants)
• not provided (2 variants)
• Familial cancer of breast (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P3R3URF-PIK3R3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region						0
non coding						0
Total	0	0	11	2	0

Variants in P3R3URF-PIK3R3

This is a list of pathogenic ClinVar variants found in the P3R3URF-PIK3R3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-46043740-T-C		not specified	Uncertain significance (Aug 30, 2022)
1-46043827-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-46043867-C-T		not specified	Uncertain significance (Jun 05, 2023)
1-46045945-T-C		not specified	Uncertain significance (Sep 06, 2022)
1-46045975-T-A		not specified	Uncertain significance (Mar 14, 2023)
1-46046014-T-C		not specified	Uncertain significance (Sep 22, 2023)
1-46055904-C-G		not specified	Uncertain significance (Nov 09, 2022)
1-46055939-C-T		Familial cancer of breast	Uncertain significance (Feb 01, 2014)
1-46061926-T-TA			Likely benign (-)
1-46066127-T-C		not specified	Uncertain significance (Aug 22, 2023)
1-46066981-T-C		not specified	Uncertain significance (May 27, 2022)
1-46066985-G-C		not specified	Uncertain significance (Jun 13, 2022)
1-46077554-G-C		not specified	Uncertain significance (Dec 26, 2023)
1-46077560-C-T		not specified	Uncertain significance (Nov 15, 2021)
1-46077579-C-T		not specified	Uncertain significance (Jun 24, 2022)
1-46176412-G-A			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP