chr22-37491203-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_014550.4(CARD10):āc.3055G>Cā(p.Glu1019Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000261 in 1,578,392 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_014550.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000421 AC: 64AN: 152056Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000464 AC: 88AN: 189850Hom.: 0 AF XY: 0.000454 AC XY: 47AN XY: 103616
GnomAD4 exome AF: 0.000244 AC: 348AN: 1426218Hom.: 1 Cov.: 31 AF XY: 0.000286 AC XY: 202AN XY: 706656
GnomAD4 genome AF: 0.000421 AC: 64AN: 152174Hom.: 0 Cov.: 31 AF XY: 0.000457 AC XY: 34AN XY: 74390
ClinVar
Submissions by phenotype
CARD10-related disorder Uncertain:1
The CARD10 c.3055G>C variant is predicted to result in the amino acid substitution p.Glu1019Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.22% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Although we suspect that this variant may be benign, 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