SMARCA5-AS1

SMARCA5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:143513027-143514635

Links

ENSG00000245112 ∙ NCBI:100128055 ∙ ∙ HGNC:39982 ∙ ∙ ∙ 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 SMARCA5-AS1 gene.

• Inborn genetic diseases (9 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SMARCA5-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			10	2	1	13
Total	0	0	10	2	1

Variants in SMARCA5-AS1

This is a list of pathogenic ClinVar variants found in the SMARCA5-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
4-143513927-G-A			Uncertain significance (Aug 25, 2021)
4-143513947-C-A			Uncertain significance (Mar 24, 2022)
4-143513949-C-G		Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
4-143513961-C-T		Inborn genetic diseases	Uncertain significance (May 23, 2024)
4-143513979-A-C		Inborn genetic diseases	Uncertain significance (Jul 31, 2024)
4-143513981-G-T		Inborn genetic diseases	Uncertain significance (Jul 14, 2023)
4-143514002-C-T			Benign (Dec 31, 2019)
4-143514033-C-T		Inborn genetic diseases	Uncertain significance (Aug 27, 2024)
4-143514043-T-G		Inborn genetic diseases	Uncertain significance (Jan 26, 2022)
4-143514055-C-T		Inborn genetic diseases	Uncertain significance (Mar 31, 2022)
4-143514064-C-G		Inborn genetic diseases	Uncertain significance (Oct 18, 2021)
4-143514067-C-G		Inborn genetic diseases	Uncertain significance (Nov 18, 2021)
4-143514070-C-T		Inborn genetic diseases	Uncertain significance (Feb 28, 2023)
4-143514072-A-C		Inborn genetic diseases	Uncertain significance (Aug 13, 2021)
4-143514075-G-T		Inborn genetic diseases	Uncertain significance (Jun 10, 2024)
4-143514077-T-G			Likely benign (Mar 13, 2018)
4-143514085-C-T		SMARCA5-related disorder	Likely benign (Apr 09, 2023)
4-143514087-G-A		Inborn genetic diseases	Uncertain significance (May 25, 2022)
4-143514090-G-T		Inborn genetic diseases	Likely benign (Jul 13, 2021)
4-143514091-C-A		Inborn genetic diseases	Uncertain significance (Mar 11, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP