GCC2-AS1

GCC2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:108464797-108534258

Links

ENSG00000214184 ∙ NCBI:644903 ∙ ∙ HGNC:28126 ∙ ∙ ∙ 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 GCC2-AS1 gene.

• not provided (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GCC2-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			1			1
Total	0	0	2	0	0

Variants in GCC2-AS1

This is a list of pathogenic ClinVar variants found in the GCC2-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
2-108468990-A-G		not specified	Uncertain significance (Jul 14, 2023)
2-108468993-G-A		not specified	Uncertain significance (Jan 04, 2025)
2-108468999-A-G		not specified	Uncertain significance (Aug 12, 2021)
2-108469005-T-C		not specified	Uncertain significance (Aug 30, 2021)
2-108469069-G-T		not specified	Uncertain significance (Apr 13, 2023)
2-108469672-G-A		not specified	Uncertain significance (Jan 23, 2023)
2-108469679-A-G		not specified	Uncertain significance (Dec 25, 2024)
2-108469700-A-G		GCC2-related disorder	Likely benign (Feb 22, 2022)
2-108469714-A-G		not specified	Uncertain significance (Feb 10, 2022)
2-108469721-T-C		not specified	Uncertain significance (Aug 17, 2022)
2-108469756-T-C		not specified	Uncertain significance (Oct 12, 2024)
2-108470069-T-C		not specified	Likely benign (Dec 28, 2022)
2-108470103-G-T		not specified	Uncertain significance (Jan 23, 2023)
2-108470109-A-G		GCC2-related disorder	Benign (Jun 05, 2018)
2-108470138-T-G		not specified	Uncertain significance (Jan 24, 2025)
2-108470255-C-G		not specified	Uncertain significance (Jun 03, 2024)
2-108470281-A-G		GCC2-related disorder	Likely benign (Mar 01, 2022)
2-108470303-T-G		not specified	Uncertain significance (Nov 20, 2024)
2-108470305-G-T		not specified	Uncertain significance (Aug 15, 2023)
2-108470324-A-G		not specified	Uncertain significance (Jan 04, 2025)
2-108470358-A-G		GCC2-related disorder	Benign (May 21, 2018)
2-108470362-G-A		not specified	Uncertain significance (Aug 14, 2024)
2-108470396-C-T		not specified	Uncertain significance (Jan 22, 2024)
2-108470399-A-G		Progressive sensorineural hearing impairment	Uncertain significance (Sep 03, 2016)
2-108470566-A-G		not specified	Uncertain significance (Mar 03, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP