ITFG2-AS1

ITFG2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:2668500-2812944

Links

ENSG00000258325 ∙ NCBI:283440 ∙ ∙ HGNC:53128 ∙ ∙ ∙ 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 ITFG2-AS1 gene.

• Inborn genetic diseases (14 variants)
• not provided (6 variants)
• FKBP4-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITFG2-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)						0
splice region						0
non coding			14	3	4	21
Total	0	0	14	3	4

Variants in ITFG2-AS1

This is a list of pathogenic ClinVar variants found in the ITFG2-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
12-2668602-A-G			Benign (Jun 19, 2018)
12-2668636-A-G			Likely benign (Jul 07, 2018)
12-2668886-A-G		Long QT syndrome	Benign (Dec 31, 2019)
12-2668895-C-G			Benign (Jun 26, 2018)
12-2668914-T-C		Long QT syndrome	Likely benign (Nov 22, 2022)
12-2668924-C-T		not specified • Long QT syndrome	Benign/Likely benign (Jan 29, 2024)
12-2668925-G-A		not specified • Long QT syndrome	Conflicting classifications of pathogenicity (Dec 27, 2023)
12-2668925-G-T		Long QT syndrome	Likely benign (Feb 20, 2023)
12-2668925-GC-G		Long QT syndrome	Likely benign (Oct 28, 2021)
12-2668929-G-A		Long QT syndrome	Likely benign (Feb 11, 2022)
12-2668934-G-A		Long QT syndrome	Uncertain significance (Mar 27, 2021)
12-2668934-G-T		Long QT syndrome	Uncertain significance (Nov 16, 2017)
12-2668936-C-T		Cardiovascular phenotype	Likely benign (Nov 28, 2023)
12-2668938-G-A		Cardiovascular phenotype	Likely benign (Jun 12, 2021)
12-2668938-G-T		Cardiovascular phenotype	Likely benign (Dec 23, 2021)
12-2668941-C-T		Long QT syndrome	Likely benign (Oct 22, 2023)
12-2668946-T-C		Long QT syndrome	Uncertain significance (Sep 23, 2019)
12-2668950-C-T		Long QT syndrome • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Dec 14, 2023)
12-2668962-C-G		Long QT syndrome	Uncertain significance (Aug 28, 2023)
12-2668962-C-T		Long QT syndrome	Likely benign (Aug 16, 2023)
12-2668963-A-G			Uncertain significance (Oct 30, 2023)
12-2668965-C-T		Long QT syndrome	Likely benign (Nov 05, 2023)
12-2668966-G-A			Uncertain significance (Oct 15, 2021)
12-2668968-C-T		not specified • Cardiovascular phenotype • Long QT syndrome	Conflicting classifications of pathogenicity (Jan 27, 2024)
12-2668972-A-ACAGT		Long QT syndrome • Cardiovascular phenotype	Uncertain significance (Sep 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP