GUCY2C-AS1

GUCY2C antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:14665629-14790901

Links

ENSG00000214772 ∙ ∙ ∙ HGNC:56054 ∙ ∙ ∙ 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 GUCY2C-AS1 gene.

• not provided (212 variants)
• Inborn genetic diseases (23 variants)
• Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (4 variants)
• Meconium ileus (4 variants)
• Congenital diarrhea 6 (4 variants)
• Reduced number of intrahepatic bile ducts;Abnormal biliary tract morphology;Duodenal atresia;Asplenia (1 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCY2C-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	2	2	121	73	31	229
Total	2	2	121	73	31

Highest pathogenic variant AF is 0.00000657

Variants in GUCY2C-AS1

This is a list of pathogenic ClinVar variants found in the GUCY2C-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
12-14669442-T-C			Benign (Jun 19, 2021)
12-14669704-T-G			Likely benign (Sep 19, 2023)
12-14669706-A-T			Likely benign (Aug 28, 2023)
12-14669707-T-C			Likely benign (Oct 05, 2023)
12-14669713-A-G			Likely benign (Nov 24, 2022)
12-14669720-A-G			Uncertain significance (Dec 11, 2023)
12-14669721-C-A			Uncertain significance (Aug 22, 2022)
12-14669721-C-T			Uncertain significance (Jul 17, 2023)
12-14669725-G-A			Conflicting classifications of pathogenicity (Jan 20, 2024)
12-14669726-G-A			Likely benign (Dec 17, 2023)
12-14669728-C-A			Uncertain significance (Jul 19, 2022)
12-14669736-T-A			Uncertain significance (Jan 22, 2024)
12-14669740-T-C		Inborn genetic diseases	Uncertain significance (Jan 26, 2022)
12-14669744-A-C			Benign (Jan 15, 2024)
12-14669765-G-C		Inborn genetic diseases	Uncertain significance (Sep 25, 2023)
12-14669773-G-C			Uncertain significance (Oct 08, 2022)
12-14669781-T-A		GUCY2C-related disorder	Uncertain significance (Jul 26, 2023)
12-14669785-C-G			Uncertain significance (Nov 16, 2021)
12-14669785-C-T			Uncertain significance (Mar 04, 2022)
12-14669792-G-C			Uncertain significance (Jan 17, 2022)
12-14669795-C-T			Likely benign (Aug 02, 2023)
12-14669803-C-T		Inborn genetic diseases	Uncertain significance (Dec 18, 2023)
12-14669804-G-A			Benign/Likely benign (Aug 01, 2024)
12-14669804-G-C			Uncertain significance (Nov 25, 2023)
12-14669806-G-C			Uncertain significance (Jan 22, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP