chr19-51225219-G-A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_001772.4(CD33):c.39G>A(p.Gly13Gly) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000803 in 1,613,328 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001772.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00419 AC: 638AN: 152198Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00110 AC: 276AN: 250394Hom.: 3 AF XY: 0.000850 AC XY: 115AN XY: 135360
GnomAD4 exome AF: 0.000446 AC: 651AN: 1461012Hom.: 6 Cov.: 31 AF XY: 0.000361 AC XY: 262AN XY: 726754
GnomAD4 genome AF: 0.00423 AC: 644AN: 152316Hom.: 6 Cov.: 32 AF XY: 0.00416 AC XY: 310AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:2
- -
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at