X-71616500-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001504.2(CXCR3):āc.972G>Cā(p.Lys324Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000281 in 1,209,826 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 10 hemizygotes in GnomAD. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CXCR3 | ENST00000373693.4 | c.972G>C | p.Lys324Asn | missense_variant | Exon 2 of 2 | 1 | NM_001504.2 | ENSP00000362797.3 | ||
CXCR3 | ENST00000373691.4 | c.1113G>C | p.Lys371Asn | missense_variant | Exon 2 of 2 | 1 | ENSP00000362795.4 |
Frequencies
GnomAD3 genomes AF: 0.00000890 AC: 1AN: 112369Hom.: 0 Cov.: 23 AF XY: 0.0000290 AC XY: 1AN XY: 34505
GnomAD3 exomes AF: 0.0000165 AC: 3AN: 182233Hom.: 0 AF XY: 0.0000150 AC XY: 1AN XY: 66811
GnomAD4 exome AF: 0.0000301 AC: 33AN: 1097457Hom.: 0 Cov.: 31 AF XY: 0.0000248 AC XY: 9AN XY: 362877
GnomAD4 genome AF: 0.00000890 AC: 1AN: 112369Hom.: 0 Cov.: 23 AF XY: 0.0000290 AC XY: 1AN XY: 34505
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1113G>C (p.K371N) alteration is located in exon 2 (coding exon 1) of the CXCR3 gene. This alteration results from a G to C substitution at nucleotide position 1113, causing the lysine (K) at amino acid position 371 to be replaced by an asparagine (N). 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