chrX-71618225-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001504.2(CXCR3):c.12+213G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00997 in 141,763 control chromosomes in the GnomAD database, including 83 homozygotes. There are 263 hemizygotes in GnomAD. 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
Consequence
NM_001504.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0135 AC: 1389AN: 102544Hom.: 81 Cov.: 19 AF XY: 0.0101 AC XY: 259AN XY: 25696
GnomAD4 exome AF: 0.000613 AC: 24AN: 39172Hom.: 0 AF XY: 0.000422 AC XY: 2AN XY: 4740
GnomAD4 genome AF: 0.0135 AC: 1390AN: 102591Hom.: 83 Cov.: 19 AF XY: 0.0101 AC XY: 261AN XY: 25753
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at