BDNF-AS

BDNF antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 11:27506808-27698231

Previous symbols: [ "BDNFOS" ]

Links

ENSG00000245573 ∙ NCBI:497258 ∙ OMIM:611468 ∙ HGNC:20608 ∙ ∙ ∙ 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 BDNF-AS gene.

• not provided (26 variants)
• BDNF-related condition (15 variants)
• Inborn genetic diseases (9 variants)
• not specified (5 variants)
• Obesity (3 variants)
• Congenital central hypoventilation (1 variants)
• Memory impairment, susceptibility to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BDNF-AS 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		2	23	9	16	50
Total	0	2	25	9	16

Variants in BDNF-AS

This is a list of pathogenic ClinVar variants found in the BDNF-AS region.

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

Position	Type	Phenotype	Significance	ClinVar
11-27657812-A-G		BDNF-related disorder	Likely benign (Aug 21, 2024)
11-27657817-T-C		BDNF-related disorder	Likely benign (Oct 02, 2023)
11-27657830-C-T		BDNF-related disorder	Likely benign (May 19, 2022)
11-27657844-A-G		BDNF-related disorder	Likely benign (Sep 15, 2023)
11-27657850-A-C		BDNF-related disorder	Uncertain significance (Jun 10, 2024)
11-27657874-T-C		BDNF-related disorder	Uncertain significance (Jul 01, 2024)
11-27657906-A-G		BDNF-related disorder	Uncertain significance (Jan 26, 2023)
11-27657922-C-T			Uncertain significance (Oct 01, 2022)
11-27657923-G-A			Likely benign (May 30, 2023)
11-27657926-C-T			Benign (Dec 02, 2023)
11-27657927-G-A		BDNF-related disorder	Uncertain significance (May 16, 2024)
11-27657932-G-T		BDNF-related disorder	Likely benign (Mar 29, 2024)
11-27657935-A-G		BDNF-related disorder	Likely benign (Jun 13, 2022)
11-27657954-CA-C			Uncertain significance (Mar 12, 2023)
11-27657956-A-G			Likely benign (Oct 23, 2023)
11-27658002-G-C		BDNF-related disorder	Uncertain significance (Mar 15, 2024)
11-27658008-C-T		Obesity	Likely pathogenic (Oct 13, 2020)
11-27658018-C-T		BDNF-related disorder	Uncertain significance (Mar 13, 2024)
11-27658019-G-A		BDNF-related disorder	Benign (May 11, 2023)
11-27658028-T-C		BDNF-related disorder	Likely benign (Aug 22, 2024)
11-27658031-C-T		BDNF-related disorder	Likely benign (Sep 12, 2023)
11-27658057-C-T		BDNF-related disorder	Uncertain significance (Apr 17, 2024)
11-27658063-C-A		Inborn genetic diseases	Likely pathogenic (Dec 20, 2016)
11-27658070-T-A		BDNF-related disorder	Likely benign (Aug 17, 2023)
11-27658076-C-T		BDNF-related disorder	Likely benign (Aug 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP