MAGI2-AS3

MAGI2 antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 7:79452845-79471217

Links

ENSG00000234456 ∙ NCBI:100505881 ∙ ∙ HGNC:40862 ∙ ∙ ∙ 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 MAGI2-AS3 gene.

• not provided (12 variants)
• Nephrotic syndrome 15 (3 variants)
• not specified (2 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGI2-AS3 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	1	1	3	5	5	15
Total	1	1	3	6	5

Variants in MAGI2-AS3

This is a list of pathogenic ClinVar variants found in the MAGI2-AS3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-79452940-T-A			Benign (Dec 24, 2019)
7-79453007-C-A			Benign (Mar 14, 2023)
7-79453045-G-C		not specified • MAGI2-related disorder • Nephrotic syndrome 15	Benign/Likely benign (Dec 20, 2023)
7-79453102-G-A		not specified • MAGI2-related disorder	Conflicting classifications of pathogenicity (Dec 01, 2023)
7-79453103-G-A		not specified	Uncertain significance (Jul 14, 2023)
7-79453146-TGCTGCCGCTCTCATAG-T			Pathogenic (Jan 06, 2024)
7-79453156-C-T			Likely benign (Jun 09, 2022)
7-79453173-CG-C		Nephrotic syndrome 15	Likely pathogenic (Sep 01, 2021)
7-79453249-CGGGTTCCT-C		Nephrotic syndrome 15	Pathogenic (Jul 18, 2018)
7-79453251-G-T		not specified	Uncertain significance (Dec 09, 2023)
7-79453252-G-T		not specified	Uncertain significance (Aug 29, 2022)
7-79453296-T-C		not specified	Uncertain significance (Apr 15, 2024)
7-79453310-C-A			Uncertain significance (Jan 10, 2018)
7-79453347-C-T			Likely benign (Jan 04, 2021)
7-79453421-A-C			Benign (Sep 26, 2020)
7-79453745-G-T			Likely benign (Oct 25, 2019)
7-79453799-CGT-C			Benign (Aug 20, 2019)
7-79453799-CGTGT-C			Benign (Mar 02, 2020)
7-79453799-C-CGT			Likely benign (Jan 06, 2020)
7-79453831-C-G			Benign (Mar 02, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP