NM_001504.2:c.749G>A
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_001504.2(CXCR3):c.749G>A(p.Arg250His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000747 in 1,205,531 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001504.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000890 AC: 1AN: 112359Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34543
GnomAD3 exomes AF: 0.0000239 AC: 4AN: 167256Hom.: 0 AF XY: 0.0000179 AC XY: 1AN XY: 56008
GnomAD4 exome AF: 0.00000732 AC: 8AN: 1093172Hom.: 0 Cov.: 32 AF XY: 0.00000835 AC XY: 3AN XY: 359162
GnomAD4 genome AF: 0.00000890 AC: 1AN: 112359Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 34543
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.890G>A (p.R297H) alteration is located in exon 2 (coding exon 1) of the CXCR3 gene. This alteration results from a G to A substitution at nucleotide position 890, causing the arginine (R) at amino acid position 297 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at