IGF2-AS

IGF2 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 11:2140501-2148666

Previous symbols: [ "IGF2AS" ]

Links

ENSG00000099869 ∙ NCBI:51214 ∙ OMIM:610146 ∙ HGNC:14062 ∙ Uniprot:Q6U949 ∙ AlphaFold ∙ 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 IGF2-AS gene.

• Inborn genetic diseases (5 variants)
• INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGF2-AS 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		1	5
Total	0	0	5	0	1

Variants in IGF2-AS

This is a list of pathogenic ClinVar variants found in the IGF2-AS region.

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

Position	Type	Phenotype	Significance	ClinVar
11-2147625-C-T		not specified	Likely benign (Dec 08, 2023)
11-2147631-G-C		not specified	Uncertain significance (Oct 03, 2022)
11-2147634-C-T		not specified	Uncertain significance (Feb 23, 2023)
11-2147712-T-C		not specified	Uncertain significance (May 15, 2024)
11-2147755-G-C		not specified	Uncertain significance (Dec 17, 2021)
11-2147759-G-T		not specified	Uncertain significance (Dec 14, 2023)
11-2147788-C-T		not specified	Uncertain significance (Aug 08, 2023)
11-2147805-C-T		not specified	Uncertain significance (Oct 03, 2022)
11-2147880-A-A		INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM	Benign (Jul 01, 2001)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0935

Mouse Genome Informatics

• Gene name: Igf2os