rs41442546
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_001394783.1(CCR5):c.*1617C>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0255 in 165,984 control chromosomes in the GnomAD database, including 77 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.027 ( 74 hom., cov: 30)
Exomes 𝑓: 0.013 ( 3 hom. )
Consequence
CCR5
NM_001394783.1 3_prime_UTR
NM_001394783.1 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.45
Genes affected
CCR5 (HGNC:1606): (C-C motif chemokine receptor 5) This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.78).
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0268 (4050/151092) while in subpopulation NFE AF= 0.0423 (2869/67826). AF 95% confidence interval is 0.041. There are 74 homozygotes in gnomad4. There are 1783 alleles in male gnomad4 subpopulation. Median coverage is 30. This position pass quality control queck.
BS2
?
High AC in GnomAd at 4050 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CCR5 | NM_001394783.1 | c.*1617C>A | 3_prime_UTR_variant | 2/2 | ENST00000292303.5 | ||
CCR5AS | NR_125406.1 | n.392-4161G>T | intron_variant, non_coding_transcript_variant | ||||
CCR5 | NM_000579.4 | c.*1617C>A | 3_prime_UTR_variant | 3/3 | |||
CCR5 | NM_001100168.2 | c.*1617C>A | 3_prime_UTR_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CCR5 | ENST00000292303.5 | c.*1617C>A | 3_prime_UTR_variant | 2/2 | 1 | NM_001394783.1 | P1 | ||
CCR5AS | ENST00000701879.1 | n.174-4161G>T | intron_variant, non_coding_transcript_variant | ||||||
CCR5AS | ENST00000451485.2 | n.392-4161G>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0268 AC: 4050AN: 150970Hom.: 74 Cov.: 30
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GnomAD4 exome AF: 0.0128 AC: 190AN: 14892Hom.: 3 Cov.: 0 AF XY: 0.0122 AC XY: 86AN XY: 7072
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GnomAD4 genome ? AF: 0.0268 AC: 4050AN: 151092Hom.: 74 Cov.: 30 AF XY: 0.0242 AC XY: 1783AN XY: 73766
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ClinVar
Not reported inComputational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at