chr20-23084293-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012072.4(CD93):c.1900C>T(p.Arg634*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000923 in 1,613,888 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012072.4 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152126Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000679 AC: 17AN: 250530Hom.: 0 AF XY: 0.0000517 AC XY: 7AN XY: 135466
GnomAD4 exome AF: 0.0000944 AC: 138AN: 1461762Hom.: 0 Cov.: 33 AF XY: 0.0000853 AC XY: 62AN XY: 727198
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152126Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74306
ClinVar
Submissions by phenotype
CD93-related disorder Uncertain:1
The CD93 c.1900C>T variant is predicted to result in premature protein termination (p.Arg634*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-23064930-G-A). Of note, loss of function variants have not commonly been reported in the CD93 gene. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at