VIM-AS1

VIM antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:17214239-17230029

Links

ENSG00000229124 ∙ NCBI:100507347 ∙ OMIM:619982 ∙ HGNC:44879 ∙ ∙ ∙ 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 VIM-AS1 gene.

• Cataract 30 (12 variants)
• not provided (7 variants)
• Inborn genetic diseases (5 variants)
• VIM-related condition (1 variants)
• Developmental cataract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VIM-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	1	1	11	5	5	23
Total	1	1	11	5	5

Highest pathogenic variant AF is 0.0000131

Variants in VIM-AS1

This is a list of pathogenic ClinVar variants found in the VIM-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
10-17228992-C-T			Likely benign (Feb 05, 2020)
10-17229111-G-C			Benign (Jun 28, 2018)
10-17229207-G-C			Likely benign (Apr 29, 2019)
10-17229396-C-T			Benign (May 25, 2021)
10-17229401-G-C		Cataract 30	Benign (Dec 05, 2021)
10-17229435-TC-T		Developmental cataract • Cataract 30	Pathogenic/Likely pathogenic (Dec 23, 2015)
10-17229445-C-T			Uncertain significance (Dec 01, 2018)
10-17229468-G-A		Cataract 30	Uncertain significance (Feb 02, 2022)
10-17229477-G-A		not specified	Uncertain significance (Jun 27, 2023)
10-17229504-C-G		Cataract 30	Uncertain significance (Dec 08, 2022)
10-17229511-A-G		not specified	Uncertain significance (Jul 26, 2022)
10-17229513-G-C		not specified	Uncertain significance (Dec 16, 2022)
10-17229521-G-T		Cataract 30 • VIM-related disorder	Benign (Nov 11, 2020)
10-17229556-G-A		Cataract 30	Uncertain significance (Aug 23, 2022)
10-17229589-C-A		Cataract 30	Uncertain significance (Aug 30, 2021)
10-17229631-T-C		not specified	Uncertain significance (Feb 21, 2024)
10-17229638-C-G		not specified	Uncertain significance (Feb 13, 2024)
10-17229651-G-A		not specified	Uncertain significance (Jun 07, 2023)
10-17229651-G-C		not specified	Uncertain significance (May 20, 2024)
10-17229698-C-G		not specified	Uncertain significance (Oct 05, 2023)
10-17229704-C-T		Cataract 30 • VIM-related disorder	Benign (Dec 31, 2019)
10-17229708-T-C		not specified	Uncertain significance (Nov 07, 2022)
10-17229806-T-C		Cataract 30	Likely benign (Dec 08, 2021)
10-17229845-A-G		Cataract 30	Likely benign (Dec 08, 2021)
10-17229872-CGAG-C		Cataract 30	Uncertain significance (Dec 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP