VCAN-AS1

VCAN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:83531352-83581320

Links

ENSG00000249835 ∙ NCBI:105379054 ∙ ∙ HGNC:40163 ∙ ∙ ∙ 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 VCAN-AS1 gene.

• not provided (979 variants)
• Wagner syndrome (150 variants)
• Vitreoretinopathy (131 variants)
• Inborn genetic diseases (72 variants)
• not specified (30 variants)
• VCAN-related condition (17 variants)
• Malignant tumor of prostate (2 variants)
• Retinal dystrophy (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VCAN-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)			2			2
splice region						0
non coding	14	2	653	326	59	1054
Total	14	2	655	326	59

Variants in VCAN-AS1

This is a list of pathogenic ClinVar variants found in the VCAN-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
5-83536654-TCTTAATTTTACTCTTTTTGCAGTTCACACAAAGATGAATTCCTGCACTTCAAGATTACATTGTATATGTGATTCCTTGCTTCATTTTAAGGACTATGTTGTTTTCTTAAATGTGTTGATGAGTCTTTATAACCTGTTTTAATAATGTTAAATTGAATTCATTTTTCTTATTGTTAATACAAAAACAGTAAATTTGAAGACTGAGAACCATATAAGAGGGTGATTGCACTTATTATGAAAAGATTTGAATCCTTCTTTGTGTGTGTGGGTGTGACCAGCCTTGCTATCAATTTCTTCTGTCATACACTGCCAAATTTTCTATTTAAGTATTGTGAAAACTCTGTTTTTTTCAGGTCGAATGAGTGATTTGAGTGTAATTGGTCATCCAATAGATTCAGAATCTAAAGAAGATGAACCTTGTAGTGAAGAAACAGATCCAGTGCATGATCTAATGGCTGAAATTTTACCTGAATTCCCTGACATAATTGAAATAGACCTATACCACAGTGAAGAAAATGAAGAAGAAGAAGAAGAGTGTGCAAATGCTACTGATGTGACAACCACCCCATCTGTGCAGTACATAAATGGGAAGCATCTCGTTACCACTGTGCCCAAGGACCCAGAAGCTGCAGAAGCTAGGCGTGGCCAGTTTGAAAGTGTTGCACCTTCTCAGAATTTCTCGGACAGCTCTGAAAGTGATACTCATCCATTTGTAATAGCCAAAACGGAATTGTCTACTGCTGTGCAACCTAATGAATCTACAGAAACAACTGAGTCTCTTGAAGTTACATGGAAGCCTGAGACTTACC-T			Likely pathogenic (May 15, 2023)
5-83536996-G-GT			Benign (Mar 14, 2023)
5-83536998-T-A			Likely benign (Mar 05, 2022)
5-83537001-T-A		Wagner syndrome	not provided (-)
5-83537002-T-A		Wagner syndrome	Pathogenic (Aug 01, 2006)
5-83537002-T-C		Wagner syndrome	Pathogenic (Aug 04, 2023)
5-83537004-C-A			Uncertain significance (Jan 11, 2024)
5-83537004-C-G			Uncertain significance (Oct 07, 2022)
5-83537005-A-C		Wagner syndrome	Pathogenic (Dec 12, 2022)
5-83537005-A-G		Wagner syndrome • Inborn genetic diseases • Retinal dystrophy	Pathogenic (Mar 17, 2023)
5-83537005-A-T		Wagner syndrome	Pathogenic (May 17, 2022)
5-83537006-G-A		Wagner syndrome • Stickler syndrome	Pathogenic (Jan 18, 2024)
5-83537006-G-C		Wagner syndrome	Pathogenic (Mar 01, 2013)
5-83537006-G-T		Wagner syndrome	Pathogenic (Oct 05, 2023)
5-83537009-C-T			Pathogenic (Nov 01, 2022)
5-83537010-G-A			Uncertain significance (Jan 20, 2024)
5-83537012-A-G			Uncertain significance (Jul 27, 2022)
5-83537017-T-A			Uncertain significance (Jun 03, 2022)
5-83537020-T-A			Uncertain significance (Oct 18, 2023)
5-83537025-G-A		Vitreoretinopathy • Wagner syndrome	Uncertain significance (Jan 13, 2018)
5-83537030-A-G			Uncertain significance (Mar 09, 2022)
5-83537031-T-C			Uncertain significance (Apr 18, 2022)
5-83537032-T-G			Uncertain significance (Aug 28, 2023)
5-83537039-C-A			Uncertain significance (Aug 03, 2022)
5-83537048-T-A			Uncertain significance (Mar 03, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP