BCAN-AS2

BCAN antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 1:156614740-156661503

Links

ENSG00000229953 ∙ ∙ ∙ HGNC:56267 ∙ ∙ ∙ 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 BCAN-AS2 gene.

• Inborn genetic diseases (34 variants)
• not provided (6 variants)
• not specified (1 variants)
• High myopia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCAN-AS2 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			31	7	3	41
Total	0	0	31	7	3

Variants in BCAN-AS2

This is a list of pathogenic ClinVar variants found in the BCAN-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-156623497-G-A		not specified	Uncertain significance (Mar 28, 2024)
1-156623506-A-G		not specified	Uncertain significance (Jan 07, 2022)
1-156623562-C-T			Benign (Jun 26, 2018)
1-156623915-G-C		not specified	Uncertain significance (Jun 07, 2024)
1-156623941-G-C		not specified	Uncertain significance (Apr 09, 2024)
1-156623996-G-A		not specified	Uncertain significance (Apr 04, 2023)
1-156624007-C-T		not specified	Uncertain significance (Nov 19, 2022)
1-156624073-G-T		not specified	Uncertain significance (Mar 25, 2024)
1-156624087-C-A		not specified	Uncertain significance (May 29, 2024)
1-156624121-A-C		not specified	Uncertain significance (Feb 03, 2022)
1-156624121-A-G		not specified	Uncertain significance (Dec 20, 2023)
1-156624123-C-G		not specified	Uncertain significance (Feb 03, 2022)
1-156624136-G-T			Benign (Nov 20, 2018)
1-156624658-G-C		not specified	Uncertain significance (Apr 08, 2024)
1-156624664-C-T		not specified	Uncertain significance (Mar 20, 2024)
1-156624693-G-T		not specified	Uncertain significance (Mar 03, 2022)
1-156624697-G-A		not specified	Uncertain significance (May 23, 2024)
1-156624729-C-T		not specified	Uncertain significance (Apr 18, 2023)
1-156624736-G-C		not specified	Uncertain significance (Dec 08, 2023)
1-156625106-G-C		not specified	Uncertain significance (Nov 18, 2023)
1-156625131-C-G		not specified	Uncertain significance (May 18, 2022)
1-156625190-C-T		not specified	Uncertain significance (Dec 07, 2021)
1-156625235-G-T		not specified	Uncertain significance (Jan 19, 2022)
1-156625247-G-A		not specified	Uncertain significance (Oct 27, 2022)
1-156625286-C-G		not specified	Uncertain significance (Feb 27, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP