VAC14-AS1

VAC14 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:70755035-70773251

Links

ENSG00000214353 ∙ NCBI:100130894 ∙ ∙ HGNC:48605 ∙ ∙ ∙ 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 VAC14-AS1 gene.

• not provided (43 variants)
• Inborn genetic diseases (5 variants)
• Striatonigral degeneration, childhood-onset (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VAC14-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		18	20	6	45
Total	1	0	18	20	6

Highest pathogenic variant AF is 0.00000657

Variants in VAC14-AS1

This is a list of pathogenic ClinVar variants found in the VAC14-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
16-70762513-T-A			Benign (May 16, 2021)
16-70762522-G-T			Likely benign (Aug 23, 2023)
16-70762526-C-T			Likely benign (Sep 17, 2022)
16-70762527-G-A			Likely benign (Jan 04, 2024)
16-70762528-T-A			Likely benign (Aug 10, 2023)
16-70762546-C-T			Likely benign (Sep 07, 2022)
16-70762554-C-A			Uncertain significance (Jun 01, 2018)
16-70762555-C-T			Likely benign (Dec 15, 2023)
16-70762556-G-A		Inborn genetic diseases	Uncertain significance (Sep 22, 2023)
16-70762565-T-A			Uncertain significance (Jan 11, 2022)
16-70762572-G-C		Striatonigral degeneration, childhood-onset • Inborn genetic diseases	Uncertain significance (Feb 06, 2023)
16-70762587-T-C			Uncertain significance (Aug 31, 2022)
16-70762591-C-A			Conflicting classifications of pathogenicity (Nov 22, 2022)
16-70762591-C-G			Likely benign (Jul 08, 2023)
16-70762591-C-T		VAC14-related disorder	Benign (Jan 31, 2024)
16-70762598-C-T		Inborn genetic diseases	Uncertain significance (Sep 20, 2023)
16-70762599-G-A		Inborn genetic diseases	Uncertain significance (Aug 16, 2022)
16-70762603-C-T		Inborn genetic diseases	Uncertain significance (Sep 14, 2023)
16-70762611-GG-AA			Uncertain significance (Apr 23, 2022)
16-70762612-G-A		Striatonigral degeneration, childhood-onset	Benign (Feb 01, 2024)
16-70762619-A-C			Likely benign (Jan 18, 2024)
16-70762632-C-T		Striatonigral degeneration, childhood-onset	Benign (Dec 05, 2021)
16-70762865-G-A			Likely benign (Aug 17, 2023)
16-70762866-G-A			Likely benign (May 27, 2022)
16-70762868-G-C			Likely benign (Apr 10, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP