chr19-51225535-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_001772.4(CD33):c.355C>T(p.Arg119Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000152 in 1,599,290 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001772.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152136Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000591 AC: 14AN: 237062Hom.: 0 AF XY: 0.0000625 AC XY: 8AN XY: 127936
GnomAD4 exome AF: 0.000155 AC: 225AN: 1447154Hom.: 0 Cov.: 33 AF XY: 0.000149 AC XY: 107AN XY: 718810
GnomAD4 genome AF: 0.000118 AC: 18AN: 152136Hom.: 0 Cov.: 31 AF XY: 0.000135 AC XY: 10AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.355C>T (p.R119W) alteration is located in exon 2 (coding exon 2) of the CD33 gene. This alteration results from a C to T substitution at nucleotide position 355, causing the arginine (R) at amino acid position 119 to be replaced by a tryptophan (W). 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