GTF3C2-AS2

GTF3C2 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 2:27356246-27367881

Links

ENSG00000234072 ∙ NCBI:105374363 ∙ ∙ HGNC:55699 ∙ ∙ ∙ 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 GTF3C2-AS2 gene.

• not provided (78 variants)
• Vanishing white matter disease (26 variants)
• not specified (9 variants)
• Inborn genetic diseases (9 variants)
• Leukoencephalopathy with vanishing white matter 4 (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GTF3C2-AS2 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	7	2	50	37	7	103
Total	7	2	50	37	7

Highest pathogenic variant AF is 0.0000132

Variants in GTF3C2-AS2

This is a list of pathogenic ClinVar variants found in the GTF3C2-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-27364361-G-A		Vanishing white matter disease	Uncertain significance (Jan 13, 2018)
2-27364399-G-A		Vanishing white matter disease • EIF2B4-related disorder	Benign (Jan 13, 2018)
2-27364403-C-T			Likely benign (Jan 18, 2023)
2-27364405-G-A		not specified	Uncertain significance (Nov 19, 2023)
2-27364406-G-A			Likely benign (Aug 06, 2023)
2-27364408-C-T		Inborn genetic diseases	Uncertain significance (Feb 23, 2023)
2-27364411-T-GA			Uncertain significance (Dec 07, 2021)
2-27364421-T-G			Likely benign (Dec 01, 2023)
2-27364436-T-C			Likely benign (Apr 08, 2023)
2-27364439-A-G			Likely benign (Jun 03, 2023)
2-27364462-G-A			Likely benign (Jul 18, 2023)
2-27364466-C-T			Likely benign (Jan 29, 2024)
2-27364467-G-A		Vanishing white matter disease	Conflicting classifications of pathogenicity (Oct 20, 2023)
2-27364481-C-T			Likely benign (Jul 25, 2023)
2-27364484-A-G		Vanishing white matter disease	Uncertain significance (Jan 12, 2018)
2-27364492-G-A			Uncertain significance (Aug 07, 2022)
2-27364496-A-C			Likely benign (Jul 29, 2023)
2-27364502-A-G			Likely benign (Jan 08, 2024)
2-27364507-A-G		Leukoencephalopathy with vanishing white matter 4 • Vanishing white matter disease	Pathogenic (Apr 24, 2024)
2-27364510-C-T		Inborn genetic diseases	Uncertain significance (Nov 01, 2022)
2-27364513-G-A			Likely benign (Sep 30, 2023)
2-27364515-T-C			Uncertain significance (Dec 21, 2022)
2-27364524-C-T			Uncertain significance (Dec 26, 2023)
2-27364525-G-A		Leukoencephalopathy with vanishing white matter 4	Pathogenic (Nov 01, 2003)
2-27364532-T-C			Likely benign (Jul 05, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP