19-51225590-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001772.4(CD33):āc.410A>Gā(p.His137Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00172 in 1,555,428 control chromosomes in the GnomAD database, including 36 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 Benign (ā ā ).
Frequency
Consequence
NM_001772.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00897 AC: 1365AN: 152150Hom.: 19 Cov.: 31
GnomAD3 exomes AF: 0.00270 AC: 547AN: 202796Hom.: 12 AF XY: 0.00205 AC XY: 220AN XY: 107296
GnomAD4 exome AF: 0.000934 AC: 1310AN: 1403160Hom.: 17 Cov.: 33 AF XY: 0.000832 AC XY: 575AN XY: 691414
GnomAD4 genome AF: 0.00897 AC: 1366AN: 152268Hom.: 19 Cov.: 31 AF XY: 0.00846 AC XY: 630AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at