CCNT2-AS1

CCNT2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:134726784-134918739

Links

ENSG00000224043 ∙ NCBI:100129961 ∙ ∙ HGNC:40130 ∙ ∙ ∙ 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 CCNT2-AS1 gene.

• Inborn genetic diseases (14 variants)
• not provided (4 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCNT2-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			16	2	1	19
Total	0	0	16	2	1

Variants in CCNT2-AS1

This is a list of pathogenic ClinVar variants found in the CCNT2-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
2-134838690-T-C		not specified	Uncertain significance (Dec 11, 2023)
2-134838696-T-C		not specified	Uncertain significance (Aug 02, 2021)
2-134838715-A-T		ACMSD-related disorder	Benign (May 03, 2018)
2-134845237-T-A		not specified	Uncertain significance (Dec 09, 2023)
2-134845251-T-C		not specified	Uncertain significance (Aug 10, 2021)
2-134859271-A-C		not specified	Uncertain significance (Jun 13, 2023)
2-134859275-G-T		not specified	Uncertain significance (Feb 05, 2024)
2-134863415-A-C		not specified	Uncertain significance (Jan 03, 2024)
2-134863427-G-C		not specified	Uncertain significance (Oct 14, 2021)
2-134863537-G-A		not specified	Uncertain significance (May 09, 2023)
2-134863563-G-A		not specified	Uncertain significance (Aug 08, 2023)
2-134863598-C-A		not specified	Uncertain significance (Dec 14, 2023)
2-134863599-C-G		not specified	Uncertain significance (Jan 23, 2024)
2-134863601-G-A			Likely benign (Aug 16, 2018)
2-134863606-C-T		not specified	Uncertain significance (Aug 14, 2023)
2-134863615-T-C		not specified	Uncertain significance (Jul 20, 2022)
2-134863630-C-T		not specified	Uncertain significance (Jul 20, 2021)
2-134863641-G-A		ACMSD-related disorder	Likely benign (Apr 09, 2019)
2-134867630-A-G		not specified	Uncertain significance (May 30, 2024)
2-134871006-A-G		not specified	Uncertain significance (Dec 22, 2023)
2-134871051-G-A		not specified	Uncertain significance (Oct 18, 2021)
2-134872455-G-T		See cases	Uncertain significance (Mar 12, 2019)
2-134872505-A-G		not specified	Uncertain significance (Dec 06, 2023)
2-134872507-G-A			Uncertain significance (Nov 01, 2022)
2-134872513-A-C		not specified	Uncertain significance (Jan 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP