rs61755739
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000634.3(CXCR1):c.838C>T(p.Arg280Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000237 in 1,613,582 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000634.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000191 AC: 48AN: 250724Hom.: 0 AF XY: 0.000192 AC XY: 26AN XY: 135470
GnomAD4 exome AF: 0.000242 AC: 354AN: 1461376Hom.: 0 Cov.: 31 AF XY: 0.000239 AC XY: 174AN XY: 726898
GnomAD4 genome AF: 0.000184 AC: 28AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000228 AC XY: 17AN XY: 74434
ClinVar
Submissions by phenotype
Susceptibility to HIV infection Uncertain:1
CXCR1 NM_000634.2 exon 2 p.Arg280Cys (c.838C>T): This variant has not been reported in the literature but is present in 0.02% (38/128626) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/2-219029097-G-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at