XPC-AS1

XPC antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:14144637-14165978

Links

ENSG00000228242 ∙ NCBI:107986063 ∙ ∙ HGNC:55014 ∙ ∙ ∙ 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 XPC-AS1 gene.

• not provided (416 variants)
• Xeroderma pigmentosum, group C (195 variants)
• Xeroderma pigmentosum (63 variants)
• not specified (40 variants)
• Inborn genetic diseases (23 variants)
• Xeroderma pigmentosum group A (11 variants)
• Arrhythmogenic right ventricular cardiomyopathy (9 variants)
• Ovarian cancer (4 variants)
• XPC-related condition (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the XPC-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)	4		3	4	1	12
splice region						0
non coding	49	65	124	292	32	562
Total	53	65	127	296	33

Highest pathogenic variant AF is 0.0000591

Variants in XPC-AS1

This is a list of pathogenic ClinVar variants found in the XPC-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
3-14145149-T-C		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)
3-14145185-A-G		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)
3-14145257-C-G		Xeroderma pigmentosum • Arrhythmogenic right ventricular cardiomyopathy • Xeroderma pigmentosum, group C	Benign/Likely benign (Jan 13, 2018)
3-14145259-T-C		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)
3-14145293-G-A		Xeroderma pigmentosum, group C	Uncertain significance (Jan 12, 2018)
3-14145317-T-G		Xeroderma pigmentosum, group C	Uncertain significance (Jul 07, 2021)
3-14145323-T-C		Xeroderma pigmentosum • Arrhythmogenic right ventricular cardiomyopathy • Xeroderma pigmentosum, group C	Benign/Likely benign (Jan 12, 2018)
3-14145330-A-G		Xeroderma pigmentosum, group C	Uncertain significance (Apr 27, 2017)
3-14145330-A-T		Xeroderma pigmentosum • Arrhythmogenic right ventricular cardiomyopathy • Xeroderma pigmentosum, group C	Benign/Likely benign (Jan 12, 2018)
3-14145458-T-G		Xeroderma pigmentosum, group C	Uncertain significance (Jan 12, 2018)
3-14145489-C-T		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)
3-14145513-C-T		Xeroderma pigmentosum	Uncertain significance (Jun 14, 2016)
3-14145529-C-CT		Xeroderma pigmentosum	Uncertain significance (Jun 14, 2016)
3-14145540-AAACG-A		Arrhythmogenic right ventricular cardiomyopathy	Likely benign (Jun 14, 2016)
3-14145671-T-C		Xeroderma pigmentosum, group C	Likely benign (Jan 13, 2018)
3-14145749-A-G		Arrhythmogenic right ventricular cardiomyopathy • Xeroderma pigmentosum • Xeroderma pigmentosum, group C	Likely benign (Feb 28, 2019)
3-14145785-C-T		Xeroderma pigmentosum, group C	Uncertain significance (Oct 31, 2018)
3-14145802-C-A		Xeroderma pigmentosum, group C	Uncertain significance (Feb 02, 2018)
3-14145808-C-T		Arrhythmogenic right ventricular cardiomyopathy • Xeroderma pigmentosum • Xeroderma pigmentosum, group C	Conflicting classifications of pathogenicity (Jan 13, 2018)
3-14145845-G-C		Arrhythmogenic right ventricular cardiomyopathy • Xeroderma pigmentosum • Xeroderma pigmentosum, group C	Benign/Likely benign (Dec 05, 2021)
3-14145852-C-G		Xeroderma pigmentosum, group C	Uncertain significance (Jan 13, 2018)
3-14145949-G-T		not specified • Xeroderma pigmentosum • Xeroderma pigmentosum, group C • Arrhythmogenic right ventricular cardiomyopathy	Benign/Likely benign (Feb 01, 2024)
3-14145950-C-T			Likely benign (Sep 19, 2023)
3-14145956-T-C			Likely benign (Oct 07, 2023)
3-14145965-G-A			Likely benign (Jul 14, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP