19-51225317-C-CCATAAA
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_001772.4(CD33):c.141_142insAACATA(p.Ile47_Pro48insAsnIle) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,614,164 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_001772.4 conservative_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152160Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251474Hom.: 1 AF XY: 0.0000221 AC XY: 3AN XY: 135910
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1461886Hom.: 1 Cov.: 34 AF XY: 0.0000124 AC XY: 9AN XY: 727240
GnomAD4 genome AF: 0.000125 AC: 19AN: 152278Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74470
ClinVar
Submissions by phenotype
CD33-related disorder Uncertain:1
The CD33 c.141_142insAACATA variant is predicted to result in an in-frame amino acid insertion (p.Ile47_Pro48insAsnIle). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. 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