PRDM6-AS1

PRDM6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:123086231-123090971

Links

ENSG00000223652 ∙ NCBI:105379152 ∙ ∙ HGNC:55869 ∙ ∙ ∙ 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 PRDM6-AS1 gene.

• Inborn genetic diseases (15 variants)
• not provided (4 variants)
• PRDM6-related condition (1 variants)
• Patent ductus arteriosus 3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRDM6-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			14	5	2	21
Total	0	0	14	5	2

Variants in PRDM6-AS1

This is a list of pathogenic ClinVar variants found in the PRDM6-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
5-123090090-C-T		PRDM6-related disorder	Uncertain significance (Jun 08, 2023)
5-123090093-T-C		Inborn genetic diseases	Uncertain significance (Mar 31, 2024)
5-123090099-C-T		Inborn genetic diseases	Uncertain significance (Aug 02, 2021)
5-123090112-G-C		Inborn genetic diseases	Uncertain significance (Feb 28, 2023)
5-123090126-A-G		Inborn genetic diseases	Likely benign (Jul 22, 2022)
5-123090135-G-C		Inborn genetic diseases	Uncertain significance (Aug 30, 2022)
5-123090137-G-T		PRDM6-related disorder	Benign (Aug 24, 2020)
5-123090139-G-A		Inborn genetic diseases	Uncertain significance (Sep 07, 2022)
5-123090142-T-C		Inborn genetic diseases	Likely benign (Oct 06, 2021)
5-123090146-G-C		PRDM6-related disorder	Benign (Jul 16, 2019)
5-123090154-C-G		PRDM6-related disorder	Likely benign (May 25, 2024)
5-123090166-A-AGCC		PRDM6-related disorder	Benign (May 02, 2024)
5-123090166-A-AGCCGCC			Likely benign (May 01, 2023)
5-123090171-C-A		Inborn genetic diseases	Uncertain significance (Mar 11, 2022)
5-123090172-C-T		Inborn genetic diseases	Uncertain significance (Jun 26, 2023)
5-123090175-C-T		Inborn genetic diseases	Uncertain significance (Apr 06, 2022)
5-123090180-C-T		Inborn genetic diseases	Uncertain significance (Nov 09, 2023)
5-123090181-C-CG		PRDM6-related disorder	Benign (Dec 31, 2019)
5-123090182-C-G		Inborn genetic diseases	Likely benign (Aug 08, 2023)
5-123090187-C-G		Inborn genetic diseases	Uncertain significance (Aug 16, 2021)
5-123090187-C-T		Inborn genetic diseases	Uncertain significance (Apr 12, 2024)
5-123090189-C-T		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)
5-123090208-C-G		Inborn genetic diseases	Uncertain significance (May 26, 2024)
5-123090213-G-A		Inborn genetic diseases	Uncertain significance (Jul 14, 2021)
5-123090229-G-T		Inborn genetic diseases	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP