X-71617218-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001504.2(CXCR3):āc.254T>Cā(p.Leu85Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000919 in 1,088,284 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001504.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000628 AC: 1AN: 159272Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 49790
GnomAD4 exome AF: 9.19e-7 AC: 1AN: 1088284Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 355642
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.395T>C (p.L132P) alteration is located in exon 2 (coding exon 1) of the CXCR3 gene. This alteration results from a T to C substitution at nucleotide position 395, causing the leucine (L) at amino acid position 132 to be replaced by a proline (P). 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