BEAN1-AS1

BEAN1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:66469796-66481230

Links

ENSG00000261656 ∙ NCBI:101927726 ∙ ∙ HGNC:51114 ∙ ∙ ∙ 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 BEAN1-AS1 gene.

• Inborn genetic diseases (8 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BEAN1-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)					1	1
splice region						0
non coding			9	2		11
Total	0	0	9	2	1

Variants in BEAN1-AS1

This is a list of pathogenic ClinVar variants found in the BEAN1-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
16-66469802-C-A			Benign (Jan 01, 2024)
16-66469812-A-G		not specified	Uncertain significance (Jul 17, 2024)
16-66469830-G-A		not specified	Uncertain significance (Aug 09, 2021)
16-66469835-C-T		not specified	Uncertain significance (Jan 26, 2022)
16-66469836-G-A		not specified	Uncertain significance (Feb 27, 2024)
16-66469845-G-A		not specified	Uncertain significance (Jun 26, 2024)
16-66469875-C-T		BEAN1-related disorder	Benign (Sep 10, 2019)
16-66477584-G-A		not specified	Uncertain significance (Mar 29, 2023)
16-66477593-G-A		not specified	Likely benign (Dec 15, 2023)
16-66477601-C-T		not specified	Uncertain significance (May 23, 2024)
16-66477622-G-A		not specified	Uncertain significance (Oct 17, 2023)
16-66477638-C-A		not specified	Uncertain significance (Jan 23, 2024)
16-66477664-G-T		not specified	Uncertain significance (Jul 07, 2024)
16-66477674-C-T		not specified	Uncertain significance (Aug 10, 2024)
16-66477676-G-A		not specified	Uncertain significance (Oct 09, 2024)
16-66480590-G-A		not specified	Uncertain significance (May 31, 2023)
16-66480611-G-T		not specified	Uncertain significance (Dec 31, 2023)
16-66480633-C-T		not specified	Uncertain significance (Aug 20, 2024)
16-66480636-A-G		not specified	Uncertain significance (Feb 16, 2023)
16-66480646-A-G		BEAN1-related disorder	Likely benign (Nov 01, 2023)
16-66480651-A-G		not specified	Uncertain significance (Jun 02, 2023)
16-66480704-G-A		not specified	Likely benign (Apr 01, 2024)
16-66480783-T-C		not specified	Uncertain significance (Jan 31, 2024)
16-66480785-C-T			Uncertain significance (May 27, 2022)
16-66480789-C-G		not specified	Uncertain significance (Jan 06, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP