CD27-AS1

CD27 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:6439001-6452092

Links

ENSG00000215039 ∙ NCBI:678655 ∙ ∙ HGNC:43896 ∙ ∙ ∙ 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 CD27-AS1 gene.

• Lymphoproliferative syndrome 2 (152 variants)
• not provided (19 variants)
• Inborn genetic diseases (12 variants)
• not specified (8 variants)
• Autoinflammatory syndrome (6 variants)
• Combined immunodeficiency (2 variants)
• Immunodeficiency (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD27-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)				3		3
splice region						0
non coding	8	5	87	53	13	166
Total	8	5	87	56	13

Highest pathogenic variant AF is 0.0000394

Variants in CD27-AS1

This is a list of pathogenic ClinVar variants found in the CD27-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
12-6444626-C-G			Benign (Nov 10, 2018)
12-6444640-G-A			Benign (Nov 10, 2018)
12-6444664-TG-T			Benign (Jun 18, 2021)
12-6444664-T-TG			Benign (Jun 19, 2021)
12-6444694-A-G			Benign (Jun 21, 2021)
12-6445096-A-G		not specified	Uncertain significance (Nov 03, 2022)
12-6445102-C-T		Lymphoproliferative syndrome 2	Uncertain significance (Dec 04, 2023)
12-6445103-G-A		Lymphoproliferative syndrome 2	Uncertain significance (Jul 20, 2022)
12-6445110-T-A		Lymphoproliferative syndrome 2	Uncertain significance (Mar 04, 2020)
12-6445110-T-G		Lymphoproliferative syndrome 2	Uncertain significance (Jan 20, 2022)
12-6445117-T-C		Lymphoproliferative syndrome 2	Uncertain significance (Sep 29, 2019)
12-6445117-T-G		Lymphoproliferative syndrome 2	Uncertain significance (Dec 29, 2021)
12-6445119-G-A		Lymphoproliferative syndrome 2	Pathogenic (Mar 01, 2012)
12-6445120-C-T		Lymphoproliferative syndrome 2	Likely benign (Jun 04, 2023)
12-6445125-C-T		Lymphoproliferative syndrome 2 • Autoinflammatory syndrome • CD27-related disorder	Benign/Likely benign (Jan 29, 2024)
12-6445126-G-A		Lymphoproliferative syndrome 2 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jun 06, 2023)
12-6445132-G-A		Lymphoproliferative syndrome 2 • Autoinflammatory syndrome • not specified	Uncertain significance (Aug 23, 2022)
12-6445132-G-T		Lymphoproliferative syndrome 2 • Inborn genetic diseases	Uncertain significance (Apr 09, 2024)
12-6445133-G-T		Lymphoproliferative syndrome 2	Uncertain significance (Aug 23, 2022)
12-6445137-C-A		Lymphoproliferative syndrome 2	Likely benign (Jul 11, 2019)
12-6445146-G-C		CD27-related disorder	Likely benign (Oct 30, 2020)
12-6445158-T-A		Lymphoproliferative syndrome 2	Likely benign (Aug 10, 2023)
12-6445162-G-A		Lymphoproliferative syndrome 2	Uncertain significance (Dec 14, 2022)
12-6445167-C-G		Lymphoproliferative syndrome 2	Likely benign (Jun 21, 2023)
12-6445168-A-G		Lymphoproliferative syndrome 2	Uncertain significance (Mar 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP