BCAS3-AS1

BCAS3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:61034416-61136127

Links

ENSG00000267207 ∙ ∙ ∙ HGNC:56376 ∙ ∙ ∙ 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 BCAS3-AS1 gene.

• Inborn genetic diseases (6 variants)
• Global developmental delay (3 variants)
• Hengel-Maroofian-Schols syndrome (3 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCAS3-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	1	3	6	1		11
Total	1	3	6	1	0

Variants in BCAS3-AS1

This is a list of pathogenic ClinVar variants found in the BCAS3-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
17-61034682-C-T		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)
17-61034683-C-T		Global developmental delay • Hengel-Maroofian-Schols syndrome	Pathogenic/Likely pathogenic (Sep 12, 2023)
17-61034712-G-A		Global developmental delay • Hengel-Maroofian-Schols syndrome	Pathogenic/Likely pathogenic (Sep 12, 2023)
17-61034748-A-C			Likely benign (Nov 01, 2022)
17-61034748-A-G		Inborn genetic diseases	Uncertain significance (Oct 25, 2022)
17-61034769-G-T		Inborn genetic diseases	Uncertain significance (Jan 23, 2024)
17-61037924-A-G		Inborn genetic diseases	Uncertain significance (May 23, 2023)
17-61037952-A-G		not specified	Uncertain significance (Mar 04, 2025)
17-61038006-C-G		Inborn genetic diseases	Uncertain significance (Jun 02, 2023)
17-61038021-T-C		Inborn genetic diseases	Uncertain significance (Dec 18, 2023)
17-61038027-C-T		Inborn genetic diseases	Uncertain significance (Aug 19, 2024)
17-61038032-C-T		Hengel-Maroofian-Schols syndrome	Pathogenic (May 22, 2022)
17-61038033-G-T		Inborn genetic diseases	Uncertain significance (Jan 26, 2022)
17-61038050-G-A		Inborn genetic diseases	Uncertain significance (Sep 24, 2024)
17-61040857-A-G		Inborn genetic diseases	Uncertain significance (Nov 08, 2022)
17-61040892-CGTAA-C		Global developmental delay	Likely pathogenic (Jan 12, 2021)
17-61074953-G-C		Inborn genetic diseases	Uncertain significance (Jul 02, 2024)
17-61074967-G-A		BCAS3-related disorder	Uncertain significance (Mar 03, 2023)
17-61075016-C-A		Inborn genetic diseases	Uncertain significance (Oct 21, 2024)
17-61078357-C-A		Inborn genetic diseases	Uncertain significance (Feb 28, 2024)
17-61078366-C-T		Inborn genetic diseases	Uncertain significance (Mar 05, 2025)
17-61078367-G-A		Inborn genetic diseases	Uncertain significance (Mar 20, 2023)
17-61078384-C-T		Global developmental delay	Likely pathogenic (Jan 12, 2021)
17-61078393-T-A		Inborn genetic diseases	Uncertain significance (Aug 23, 2021)
17-61078426-G-A		Inborn genetic diseases	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP