CCR5AS

CCR5 antisense RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 3:46363984-46407184

Links

ENSG00000223552 ∙ NCBI:102724297 ∙ ∙ HGNC:54398 ∙ ∙ ∙ 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 CCR5AS gene.

• Inborn genetic diseases (10 variants)
• Susceptibility to HIV infection (4 variants)
• not provided (2 variants)
• CCR5-related condition (2 variants)
• Human immunodeficiency virus type 1, increased perinatal transmission of (1 variants)
• Acquired immunodeficiency syndrome, delayed progression to (1 variants)
• CCR5 POLYMORPHISM, AFRICAN-AMERICAN (1 variants)
• not specified (1 variants)
• CCR5 PROMOTER POLYMORPHISM (1 variants)
• CCR5 POLYMORPHISM, ORIENTAL 2 (1 variants)
• CCR5 POLYMORPHISM, ORIENTAL 1 (1 variants)
• West Nile virus, susceptibility to (1 variants)
• Resistance to hepatitis C virus (1 variants)
• Hepatitis C virus, susceptibility to;Susceptibility to HIV infection;West Nile virus, susceptibility to;Type 1 diabetes mellitus 22 (1 variants)
• Multiple sclerosis modifier of disease progression (1 variants)
• West Nile virus, susceptibility to;Type 1 diabetes mellitus 22 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCR5AS 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	19
Total	0	0	14	0	5

Variants in CCR5AS

This is a list of pathogenic ClinVar variants found in the CCR5AS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-46370444-A-G		Susceptibility to HIV infection • Acquired immunodeficiency syndrome, delayed progression to • CCR5 PROMOTER POLYMORPHISM • CCR5-related disorder	Conflicting classifications of pathogenicity; protective (Feb 18, 2021)
3-46370771-C-T		Human immunodeficiency virus type 1, increased perinatal transmission of • not specified	Benign (Oct 28, 2020)
3-46372971-C-A		CCR5-related disorder	Likely benign (Mar 27, 2019)
3-46372976-T-A		CCR5-related disorder	Uncertain significance (Sep 12, 2024)
3-46372994-G-A		not specified	Uncertain significance (Jul 21, 2021)
3-46373018-T-G		not specified	Uncertain significance (Dec 01, 2022)
3-46373082-G-T		Susceptibility to HIV infection	protective (Jun 01, 2001)
3-46373089-A-T		Type 1 diabetes mellitus 22;West Nile virus, susceptibility to • Hepatitis C virus, susceptibility to;Susceptibility to HIV infection;Type 1 diabetes mellitus 22;West Nile virus, susceptibility to	Uncertain significance (Mar 30, 2021)
3-46373174-C-T		not specified	Uncertain significance (Dec 16, 2022)
3-46373176-G-A		not specified	Uncertain significance (Apr 25, 2022)
3-46373197-A-T		not specified	Uncertain significance (Dec 06, 2022)
3-46373205-T-A		Susceptibility to HIV infection	protective (Jan 03, 1998)
3-46373218-G-A		CCR5-related disorder	Likely benign (Jun 12, 2019)
3-46373224-T-C		not specified	Uncertain significance (Dec 23, 2023)
3-46373260-A-G		not specified	Uncertain significance (Jun 17, 2024)
3-46373325-G-A		CCR5-related disorder	Likely benign (Oct 22, 2019)
3-46373394-C-G			Uncertain significance (-)
3-46373404-A-G		not specified	Uncertain significance (Dec 20, 2022)
3-46373419-G-T		not specified	Uncertain significance (Apr 10, 2023)
3-46373452-TACAGTCAGTATCAATTCTGGAAGAATTTCCAG-T		West Nile virus, susceptibility to • Multiple sclerosis modifier of disease progression • Susceptibility to HIV infection • Resistance to hepatitis C virus • CCR5-related disorder	Benign (Nov 22, 2019)
3-46373543-A-G		not specified	Uncertain significance (Dec 14, 2023)
3-46373570-G-A		CCR5 POLYMORPHISM, ORIENTAL 2	Benign (-)
3-46373617-A-G		CCR5-related disorder	Uncertain significance (Nov 04, 2022)
3-46373643-C-T		CCR5-related disorder	Likely benign (Apr 01, 2019)
3-46373716-T-C		not specified	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP