19-51225559-T-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001772.4(CD33):āc.379T>Cā(p.Tyr127His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00353 in 1,578,902 control chromosomes in the GnomAD database, including 122 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_001772.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00574 AC: 873AN: 152020Hom.: 22 Cov.: 31
GnomAD3 exomes AF: 0.00703 AC: 1537AN: 218580Hom.: 37 AF XY: 0.00667 AC XY: 779AN XY: 116760
GnomAD4 exome AF: 0.00329 AC: 4701AN: 1426764Hom.: 100 Cov.: 33 AF XY: 0.00319 AC XY: 2250AN XY: 706326
GnomAD4 genome AF: 0.00573 AC: 872AN: 152138Hom.: 22 Cov.: 31 AF XY: 0.00789 AC XY: 587AN XY: 74382
ClinVar
Submissions by phenotype
not provided Benign:1
CD33: BP4, BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at