chrX-71617534-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM1BP4_Moderate
The NM_001142797.2(CXCR3):āc.79A>Gā(p.Lys27Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001142797.2 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 AF: 0.00 AC: 1AN: 110391Hom.: 0 Cov.: 22 AF XY: 0.0000306 AC XY: 1AN XY: 32643 FAILED QC
GnomAD3 exomes AF: 0.0000325 AC: 4AN: 122990Hom.: 0 AF XY: 0.000102 AC XY: 4AN XY: 39320
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000376 AC: 4AN: 1063895Hom.: 0 Cov.: 31 AF XY: 0.0000116 AC XY: 4AN XY: 344813
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000906 AC: 1AN: 110391Hom.: 0 Cov.: 22 AF XY: 0.0000306 AC XY: 1AN XY: 32643
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.79A>G (p.K27E) alteration is located in exon 2 (coding exon 1) of the CXCR3 gene. This alteration results from a A to G substitution at nucleotide position 79, causing the lysine (K) at amino acid position 27 to be replaced by a glutamic acid (E). 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