MCM8-AS1

MCM8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:5990797-6007366

Links

ENSG00000278719 ∙ NCBI:101929225 ∙ ∙ HGNC:51230 ∙ ∙ ∙ 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 MCM8-AS1 gene.

• Inborn genetic diseases (4 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCM8-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			5			5
Total	0	0	5	0	0

Variants in MCM8-AS1

This is a list of pathogenic ClinVar variants found in the MCM8-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
20-5993523-C-G		Inborn genetic diseases	Uncertain significance (Feb 07, 2023)
20-5993556-C-T		MCM8-related disorder	Likely benign (May 27, 2019)
20-5993582-A-G		Inborn genetic diseases	Uncertain significance (Oct 12, 2021)
20-5993592-C-T		Inborn genetic diseases	Uncertain significance (Dec 09, 2024)
20-5993598-G-C		Inborn genetic diseases	Uncertain significance (Aug 18, 2023)
20-5993639-A-G		Inborn genetic diseases	Uncertain significance (Oct 22, 2021)
20-5993688-A-G		Inborn genetic diseases	Uncertain significance (Jun 17, 2024)
20-5993694-A-G		Inborn genetic diseases	Uncertain significance (Oct 13, 2023)
20-5994303-C-A		Inborn genetic diseases	Uncertain significance (Apr 22, 2024)
20-5994321-T-C		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
20-5994338-C-T			Uncertain significance (Jun 16, 2020)
20-5994354-A-G		Inborn genetic diseases	Uncertain significance (Nov 28, 2023)
20-6006250-C-A		not specified	Uncertain significance (Dec 15, 2022)
20-6006262-G-A		not specified	Uncertain significance (Nov 09, 2024)
20-6006287-T-G		not specified	Uncertain significance (Oct 22, 2021)
20-6006295-G-T		not specified	Uncertain significance (Oct 29, 2024)
20-6006300-T-G			Likely benign (May 08, 2018)
20-6006308-C-T		not specified	Uncertain significance (Aug 02, 2021)
20-6006311-G-A		not specified	Uncertain significance (Oct 27, 2022)
20-6006320-C-G		not specified	Uncertain significance (May 21, 2024)
20-6006321-G-A			Likely benign (Mar 01, 2025)
20-6006331-C-A		not specified	Uncertain significance (Apr 17, 2024)
20-6006484-G-A		not specified	Uncertain significance (Oct 07, 2022)
20-6006485-C-T		not specified	Uncertain significance (Apr 06, 2023)
20-6006503-C-T		not specified	Uncertain significance (Mar 06, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP