WDFY3-AS1

WDFY3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:84796614-84810403

Links

ENSG00000251260 ∙ ∙ ∙ HGNC:40935 ∙ ∙ ∙ 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 WDFY3-AS1 gene.

• not provided (33 variants)
• Inborn genetic diseases (14 variants)
• Microcephaly 18, primary, autosomal dominant (3 variants)
• WDFY3-related condition (2 variants)
• Malignant tumor of prostate (1 variants)
• Focal-onset seizure;Autism;Intellectual disability (1 variants)
• Neurodevelopmental delay (1 variants)
• See cases (1 variants)
• Autism spectrum disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDFY3-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	1	3
splice region						0
non coding	3	3	36	4	6	52
Total	3	3	37	5	7

Variants in WDFY3-AS1

This is a list of pathogenic ClinVar variants found in the WDFY3-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
4-84796626-C-A			Uncertain significance (Jan 09, 2023)
4-84796647-C-A			Uncertain significance (May 25, 2023)
4-84796654-C-G		Inborn genetic diseases	Uncertain significance (Feb 21, 2024)
4-84796680-C-T		Inborn genetic diseases	Uncertain significance (Oct 17, 2023)
4-84796681-G-C			Uncertain significance (Oct 01, 2022)
4-84796720-T-C		Inborn genetic diseases	Uncertain significance (Jun 18, 2021)
4-84796722-C-A			Uncertain significance (Feb 21, 2023)
4-84796725-A-G		Inborn genetic diseases	Uncertain significance (Sep 01, 2021)
4-84796742-G-C		Inborn genetic diseases	Uncertain significance (Apr 06, 2024)
4-84796747-T-G		Inborn genetic diseases	Uncertain significance (Feb 12, 2024)
4-84796755-G-A			Uncertain significance (Aug 12, 2022)
4-84797795-A-T			Benign (May 16, 2021)
4-84797999-T-A		Autism spectrum disorder	Likely pathogenic (-)
4-84798047-GT-G		Inborn genetic diseases	Pathogenic (Dec 12, 2023)
4-84798071-C-A			Uncertain significance (Jan 01, 2024)
4-84798074-C-T		Inborn genetic diseases	Uncertain significance (Apr 27, 2022)
4-84801659-A-G			Uncertain significance (Jan 31, 2024)
4-84801687-G-A		Microcephaly 18, primary, autosomal dominant	Likely pathogenic (Jul 25, 2022)
4-84801708-G-A			Uncertain significance (Feb 15, 2023)
4-84801725-T-C		Inborn genetic diseases	Uncertain significance (May 18, 2023)
4-84801747-T-A			Uncertain significance (Sep 05, 2024)
4-84801762-G-A			Likely benign (Mar 01, 2023)
4-84801765-G-A			Pathogenic (Feb 27, 2024)
4-84801768-C-T			Uncertain significance (Oct 25, 2022)
4-84801783-C-T			Uncertain significance (Jul 25, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP