SPTBN1-AS2

SPTBN1 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 2:54661011-54680045

Links

ENSG00000238018 ∙ ∙ ∙ HGNC:40563 ∙ ∙ ∙ 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 SPTBN1-AS2 gene.

• not provided (10 variants)
• Inborn genetic diseases (9 variants)
• Developmental delay, impaired speech, and behavioral abnormalities (4 variants)
• not specified (1 variants)
• SPTBN1-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPTBN1-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)			1			1
splice region						0
non coding		1	17	5	1	24
Total	0	1	18	5	1

Variants in SPTBN1-AS2

This is a list of pathogenic ClinVar variants found in the SPTBN1-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
2-54664463-C-T		Inborn genetic diseases	Uncertain significance (Jul 27, 2024)
2-54664489-G-A		Inborn genetic diseases • SPTBN1-related disorder	Uncertain significance (Aug 14, 2023)
2-54664513-T-C			Uncertain significance (Jun 03, 2024)
2-54664541-C-T		Inborn genetic diseases	Uncertain significance (Sep 26, 2024)
2-54664581-G-C		Inborn genetic diseases	Uncertain significance (May 27, 2022)
2-54664583-G-A		SPTBN1-related disorder	Uncertain significance (Jul 16, 2024)
2-54664588-G-A		Inborn genetic diseases	Likely benign (Sep 06, 2022)
2-54664591-A-G		SPTBN1-related disorder	Uncertain significance (Dec 01, 2022)
2-54664622-C-T		Inborn genetic diseases	Uncertain significance (Aug 17, 2021)
2-54664623-G-A			Benign (Dec 31, 2019)
2-54664631-T-G		Developmental delay, impaired speech, and behavioral abnormalities	Uncertain significance (Apr 04, 2024)
2-54664672-A-T		Inborn genetic diseases	Uncertain significance (Nov 13, 2023)
2-54664674-TAAG-T			Uncertain significance (Mar 19, 2024)
2-54665920-G-A			Uncertain significance (Mar 14, 2022)
2-54665979-A-G		Inborn genetic diseases	Uncertain significance (Feb 15, 2023)
2-54665986-C-A			Likely pathogenic (Aug 13, 2022)
2-54665999-C-G			Likely benign (Oct 01, 2023)
2-54666001-A-T		Developmental delay, impaired speech, and behavioral abnormalities	Uncertain significance (May 23, 2023)
2-54666045-G-A		Inborn genetic diseases	Uncertain significance (Jun 10, 2024)
2-54666058-A-G		SPTBN1-related disorder	Uncertain significance (May 08, 2024)
2-54668348-C-A		Inborn genetic diseases	Uncertain significance (Jan 10, 2022)
2-54668357-A-G		Developmental delay, impaired speech, and behavioral abnormalities	Uncertain significance (Jan 30, 2023)
2-54668372-C-T		Developmental delay, impaired speech, and behavioral abnormalities	Uncertain significance (Nov 16, 2023)
2-54668376-CTA-C			Uncertain significance (Feb 21, 2024)
2-54668387-G-A		Inborn genetic diseases	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP