BVES-AS1

BVES antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:105136217-105200152

Previous symbols: [ "C6orf112" ]

Links

ENSG00000203808 ∙ NCBI:154442 ∙ ∙ HGNC:21223 ∙ Uniprot:Q5T3Y7 ∙ AlphaFold ∙ 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 BVES-AS1 gene.

• Inborn genetic diseases (9 variants)
• not provided (8 variants)
• Muscular dystrophy, limb-girdle, autosomal recessive 26 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BVES-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	3		9	1	7	20
Total	3	0	9	1	7

Highest pathogenic variant AF is 0.0000197

Variants in BVES-AS1

This is a list of pathogenic ClinVar variants found in the BVES-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
6-105158526-G-A		not specified	Uncertain significance (Feb 27, 2024)
6-105158564-C-T		Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic (Apr 21, 2020)
6-105158675-T-C		not specified	Uncertain significance (Aug 30, 2022)
6-105158695-T-A		Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic (Apr 21, 2020)
6-105158751-C-G		not specified	Uncertain significance (Oct 20, 2023)
6-105158927-G-A			Benign (May 14, 2021)
6-105159789-C-T			Benign (May 04, 2021)
6-105159797-C-T		not specified	Uncertain significance (Feb 27, 2023)
6-105159805-A-G		not specified	Uncertain significance (Oct 06, 2021)
6-105159820-C-T		Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic (Apr 11, 2024)
6-105159825-A-T		Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic (Apr 11, 2024)
6-105161261-T-C			Benign (May 14, 2021)
6-105161325-C-T			Benign (May 22, 2021)
6-105161446-A-T		Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic (Apr 21, 2020)
6-105161450-T-C		Muscular dystrophy, limb-girdle, autosomal recessive 26	Pathogenic (Apr 11, 2024)
6-105161515-C-T			Benign (Jul 15, 2018)
6-105161521-G-A		not specified	Uncertain significance (Aug 04, 2024)
6-105161527-G-A		not specified	Uncertain significance (Oct 08, 2024)
6-105161593-C-T			Benign (May 05, 2021)
6-105161627-T-C		not specified	Uncertain significance (Apr 05, 2023)
6-105161633-C-T		not specified	Uncertain significance (Apr 05, 2023)
6-105161640-C-T			Likely benign (Jul 01, 2024)
6-105161664-A-C		not specified	Uncertain significance (Apr 27, 2022)
6-105161678-A-G		not specified	Uncertain significance (Mar 13, 2023)
6-105161835-G-A		POPDC3-related disorder	Likely benign (Nov 04, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114