RNF213-AS1

RNF213 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:80351828-80415168

Links

ENSG00000263069 ∙ NCBI:100294362 ∙ ∙ HGNC:54402 ∙ ∙ ∙ 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 RNF213-AS1 gene.

• not provided (175 variants)
• Moyamoya disease 2 (45 variants)
• See cases (4 variants)
• RNF213-related condition (3 variants)
• Moyamoya angiopathy (3 variants)
• Stroke (2 variants)
• not specified (2 variants)
• Moyamoya disease (2 variants)
• Inborn genetic diseases (2 variants)
• 6 conditions (1 variants)
• Anaplastic ependymoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF213-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)				1		1
splice region						0
non coding	4	12	71	68	61	216
Total	4	12	71	69	61

Highest pathogenic variant AF is 0.0000197

Variants in RNF213-AS1

This is a list of pathogenic ClinVar variants found in the RNF213-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
17-80352972-C-T			Uncertain significance (Feb 18, 2022)
17-80352987-A-T		not specified	Uncertain significance (Aug 26, 2024)
17-80353039-C-T			Likely benign (Aug 28, 2023)
17-80353043-C-T			Likely benign (Nov 14, 2022)
17-80353068-C-T			Likely benign (Nov 22, 2023)
17-80353074-G-A			Benign (Mar 28, 2021)
17-80353504-G-A			Benign/Likely benign (May 01, 2020)
17-80353507-T-A			Uncertain significance (Jan 29, 2018)
17-80353526-C-T			Likely benign (Mar 01, 2018)
17-80353530-C-T			Benign (Apr 14, 2023)
17-80353531-G-A		Moyamoya disease 2	Benign/Likely benign (Dec 22, 2023)
17-80353538-G-A			Conflicting classifications of pathogenicity (Dec 06, 2023)
17-80353551-C-T		RNF213-related disorder	Uncertain significance (Sep 28, 2022)
17-80353552-G-A			Likely benign (Jan 14, 2024)
17-80353558-G-A			Benign (Feb 01, 2024)
17-80353575-C-T			Likely benign (Jul 05, 2018)
17-80353579-GGAGGTGGCA-G			Uncertain significance (Aug 17, 2023)
17-80353655-G-A			Conflicting classifications of pathogenicity (Mar 20, 2023)
17-80353675-T-C			Likely benign (Oct 31, 2017)
17-80354031-G-A			Uncertain significance (May 12, 2023)
17-80354076-A-G			Likely benign (Jan 30, 2018)
17-80354105-G-A			Likely benign (Sep 16, 2021)
17-80354116-G-A			Uncertain significance (Aug 11, 2023)
17-80354156-C-T			Benign (May 12, 2023)
17-80354165-C-T		RNF213-related disorder	Likely benign (Oct 04, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP