rs753244136
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001504.2(CXCR3):āc.298A>Gā(p.Thr100Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000373 in 1,206,075 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 14 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001504.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000267 AC: 3AN: 112197Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 34393
GnomAD3 exomes AF: 0.000223 AC: 38AN: 170690Hom.: 0 AF XY: 0.000209 AC XY: 12AN XY: 57552
GnomAD4 exome AF: 0.0000384 AC: 42AN: 1093878Hom.: 0 Cov.: 31 AF XY: 0.0000389 AC XY: 14AN XY: 359726
GnomAD4 genome AF: 0.0000267 AC: 3AN: 112197Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 34393
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at