22-42130715-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_000106.6(CYP2D6):c.77G>A(p.Arg26His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00151 in 1,602,016 control chromosomes in the GnomAD database, including 114 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R26C) has been classified as Uncertain significance.
Frequency
Consequence
NM_000106.6 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00587 AC: 886AN: 151032Hom.: 50 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.00223 AC: 524AN: 235250 AF XY: 0.00203 show subpopulations
GnomAD4 exome AF: 0.00106 AC: 1543AN: 1450870Hom.: 64 Cov.: 33 AF XY: 0.00111 AC XY: 801AN XY: 720880 show subpopulations
GnomAD4 genome AF: 0.00585 AC: 884AN: 151146Hom.: 50 Cov.: 31 AF XY: 0.00583 AC XY: 431AN XY: 73866 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at