2-218134891-C-T
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_001557.4(CXCR2):c.90C>T(p.Pro30Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000829 in 1,614,134 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Synonymous variant affecting the same amino acid position (i.e. P30P) has been classified as Likely benign.
Frequency
Consequence
NM_001557.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000401 AC: 61AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000755 AC: 190AN: 251492Hom.: 0 AF XY: 0.000912 AC XY: 124AN XY: 135918
GnomAD4 exome AF: 0.000874 AC: 1277AN: 1461892Hom.: 2 Cov.: 30 AF XY: 0.000884 AC XY: 643AN XY: 727248
GnomAD4 genome AF: 0.000401 AC: 61AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.000363 AC XY: 27AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at