PKD1-AS1

PKD1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:2091436-2095433

Links

ENSG00000259933 ∙ NCBI:105371049 ∙ ∙ HGNC:56035 ∙ ∙ ∙ 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 PKD1-AS1 gene.

• Polycystic kidney disease, adult type (157 variants)
• not provided (150 variants)
• Polycystic kidney dysplasia (46 variants)
• not specified (37 variants)
• Inborn genetic diseases (23 variants)
• PKD1-related condition (21 variants)
• Autosomal dominant polycystic kidney disease (19 variants)
• Hypertensive disorder;Polycystic kidney dysplasia (1 variants)
• Enlarged kidney;Hyperechogenic kidneys;Multiple renal cysts;Anhydramnios (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PKD1-AS1 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			2	3		5
splice region						0
non coding	85	56	115	45	15	316
Total	85	56	117	48	15

Highest pathogenic variant AF is 0.00000657

Variants in PKD1-AS1

This is a list of pathogenic ClinVar variants found in the PKD1-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2091439-AGCGAGAGGCCCGCGCTGAGGCG-A		Polycystic kidney disease, adult type	Pathogenic (Dec 11, 2023)
16-2091441-CGA-C		Polycystic kidney disease, adult type	Pathogenic (Dec 10, 2021)
16-2091442-G-T		Polycystic kidney disease, adult type	Pathogenic (Apr 29, 2022)
16-2091446-G-A			Benign (Apr 01, 2022)
16-2091447-G-A		Polycystic kidney disease, adult type	Likely benign (Apr 01, 2024)
16-2091451-G-A		Polycystic kidney disease, adult type • Inborn genetic diseases	Uncertain significance (Dec 05, 2023)
16-2091453-G-A		not specified • Polycystic kidney disease, adult type • Polycystic kidney disease	Benign (Oct 22, 2020)
16-2091458-G-A		PKD1-related disorder	Uncertain significance (Jan 10, 2024)
16-2091458-G-C		PKD1-related disorder	Uncertain significance (Dec 26, 2022)
16-2091460-C-T		not specified • Polycystic kidney disease, adult type • PKD1-related disorder	Uncertain significance (Apr 27, 2022)
16-2091463-C-T		Inborn genetic diseases • not specified • Polycystic kidney disease, adult type	Conflicting classifications of pathogenicity (May 26, 2023)
16-2091470-C-A		Inborn genetic diseases • PKD1-related disorder	Uncertain significance (Nov 23, 2022)
16-2091472-AAGGGGCGGACGCTG-A		Polycystic kidney disease, adult type	Pathogenic (Jun 17, 2019)
16-2091473-AG-A		Polycystic kidney disease, adult type	Likely pathogenic (Aug 25, 2021)
16-2091474-G-GGGGCGGACGCTGAGGGCGGCCAGGGCGC		Polycystic kidney disease, adult type	Pathogenic/Likely pathogenic (May 22, 2022)
16-2091478-C-G		Polycystic kidney disease, adult type	Likely pathogenic (Nov 09, 2022)
16-2091479-G-T			Uncertain significance (Feb 20, 2017)
16-2091481-A-C			Uncertain significance (Nov 01, 2023)
16-2091481-ACGCTGAGGGCGGCCAGGGCGCGGCCGGC-A		Inborn genetic diseases	Pathogenic (Jan 03, 2024)
16-2091483-G-A		Polycystic kidney disease • Polycystic kidney disease, adult type	Benign (Jan 07, 2019)
16-2091484-CT-C		Polycystic kidney disease, adult type	Pathogenic (Nov 07, 2022)
16-2091488-GGGCGGCCAGGGCGC-G		Polycystic kidney disease, adult type	Pathogenic (Jun 07, 2023)
16-2091489-G-C			Likely benign (Jan 01, 2018)
16-2091492-G-A		not specified	Likely benign (Dec 30, 2016)
16-2091493-G-T		Polycystic kidney disease, adult type	Uncertain significance (Oct 14, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP