ACVR2B-AS1

ACVR2B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:38451027-38454820

Links

ENSG00000229589 ∙ NCBI:100128640 ∙ ∙ HGNC:44161 ∙ ∙ ∙ 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 ACVR2B-AS1 gene.

• Heterotaxy, visceral, 4, autosomal (9 variants)
• not provided (2 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACVR2B-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			7	3	1	11
Total	0	0	7	3	1

Variants in ACVR2B-AS1

This is a list of pathogenic ClinVar variants found in the ACVR2B-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
3-38454302-C-T		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Apr 27, 2017)
3-38454323-A-G		Heterotaxy, visceral, 4, autosomal	Uncertain significance (May 01, 2018)
3-38454328-G-C			Likely benign (-)
3-38454331-G-A		Heterotaxy, visceral, 4, autosomal	Likely benign (Feb 21, 2022)
3-38454332-C-T		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Feb 04, 2022)
3-38454342-C-T		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Nov 19, 2021)
3-38454344-C-T		Heterotaxy, visceral, 4, autosomal • not specified	Uncertain significance (Jun 02, 2023)
3-38454346-C-A		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 15, 2018)
3-38454367-G-A		Heterotaxy, visceral, 4, autosomal	Uncertain significance (Jan 13, 2018)
3-38454382-C-T		Heterotaxy, visceral, 4, autosomal	Likely benign (May 03, 2021)
3-38454382-CTG-C		ACVR2B-related disorder	Likely benign (Nov 19, 2022)
3-38454574-C-T			Benign (Nov 10, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP