ERCC8-AS1

ERCC8 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 5:60917424-60919577

Links

ENSG00000233847 ∙ NCBI:105378991 ∙ ∙ HGNC:40220 ∙ ∙ ∙ 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 ERCC8-AS1 gene.

• not provided (35 variants)
• Cockayne syndrome type 1 (14 variants)
• Inborn genetic diseases (3 variants)
• UV-sensitive syndrome 2;Cockayne syndrome type 1 (2 variants)
• Cockayne syndrome (1 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERCC8-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	8	7	11	15	3	44
Total	8	7	11	15	3

Highest pathogenic variant AF is 0.0000329

Variants in ERCC8-AS1

This is a list of pathogenic ClinVar variants found in the ERCC8-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
5-60918246-A-G			Benign (Jan 29, 2024)
5-60918249-G-A			Likely benign (Dec 13, 2023)
5-60918257-G-A			Likely benign (Oct 23, 2023)
5-60918258-T-C			Likely benign (Dec 19, 2022)
5-60918262-T-C		Cockayne syndrome type 1	Uncertain significance (Jan 12, 2018)
5-60918264-C-T		Cockayne syndrome type 1	Likely pathogenic (Jan 28, 2024)
5-60918265-TTGTAA-T		Cockayne syndrome type 1	Pathogenic (Jan 24, 2024)
5-60918266-TG-T			Pathogenic (Jan 21, 2024)
5-60918267-G-A		Cockayne syndrome type 1	Likely pathogenic (Mar 11, 2020)
5-60918271-T-C			Likely benign (Nov 05, 2023)
5-60918274-A-G		Cockayne syndrome type 1;UV-sensitive syndrome 2	Likely benign (May 23, 2022)
5-60918280-A-G			Likely benign (Jun 10, 2022)
5-60918282-C-T		Cockayne syndrome type 1	Uncertain significance (Jan 13, 2018)
5-60918283-C-T			Pathogenic (Jul 26, 2021)
5-60918285-A-G		Inborn genetic diseases	Uncertain significance (Aug 16, 2022)
5-60918285-AT-A			Pathogenic (Jun 01, 2023)
5-60918286-T-C			Likely benign (Jun 03, 2023)
5-60918301-A-G		not specified • Cockayne syndrome type 1	Benign (Feb 01, 2024)
5-60918308-G-T			Pathogenic (Oct 08, 2020)
5-60918310-G-A			Likely benign (Sep 04, 2022)
5-60918311-C-T			Uncertain significance (Dec 02, 2021)
5-60918314-G-C			Pathogenic (Sep 03, 2023)
5-60918314-G-T			Pathogenic/Likely pathogenic (Mar 17, 2023)
5-60918316-T-A			Likely benign (Dec 09, 2023)
5-60918316-T-C			Likely benign (Dec 27, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP