CAVIN2-AS1

CAVIN2 and TMEFF2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:191844916-192085236

Links

ENSG00000233766 ∙ NCBI:105373813 ∙ ∙ HGNC:40517 ∙ ∙ ∙ 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 CAVIN2-AS1 gene.

• Inborn genetic diseases (4 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAVIN2-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			4	1	1	6
Total	0	0	4	1	1

Variants in CAVIN2-AS1

This is a list of pathogenic ClinVar variants found in the CAVIN2-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
2-191846471-C-T		not specified	Uncertain significance (Dec 15, 2022)
2-191846474-C-T		not specified	Uncertain significance (Feb 13, 2024)
2-191846482-C-A		not specified	Uncertain significance (May 20, 2024)
2-191846504-C-G		not specified	Uncertain significance (Jun 21, 2022)
2-191846516-G-A		not specified	Uncertain significance (Oct 05, 2023)
2-191846620-C-A		not specified	Uncertain significance (Aug 26, 2022)
2-191846628-G-A		not specified	Uncertain significance (Nov 26, 2024)
2-191846728-C-T			Benign (Jun 21, 2018)
2-191846755-C-A			Likely benign (Sep 01, 2022)
2-191846817-T-C		not specified	Uncertain significance (May 10, 2024)
2-191846859-G-A		not specified	Uncertain significance (Dec 08, 2023)
2-191846870-C-T		not specified	Uncertain significance (Jul 26, 2022)
2-191846883-C-T		not specified	Uncertain significance (Sep 17, 2021)
2-191950393-C-A		not specified	Uncertain significance (Apr 01, 2024)
2-191953730-A-G		not specified	Uncertain significance (Dec 11, 2023)
2-191953740-C-T		not specified	Uncertain significance (Jan 10, 2022)
2-191953760-C-T		not specified	Uncertain significance (Aug 27, 2024)
2-191953791-T-C		not specified	Uncertain significance (Nov 12, 2021)
2-191956313-C-T		not specified	Uncertain significance (Jun 29, 2023)
2-191998268-A-G		not specified	Uncertain significance (Aug 09, 2021)
2-192057773-G-A			Benign (Mar 29, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP