22-42126749-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000106.6(CYP2D6):c.1319G>A(p.Arg440His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000167 in 1,549,504 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R440C) has been classified as Likely benign.
Frequency
Consequence
NM_000106.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000387 AC: 58AN: 150038Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.000219 AC: 32AN: 145816Hom.: 1 AF XY: 0.000270 AC XY: 21AN XY: 77670
GnomAD4 exome AF: 0.000143 AC: 200AN: 1399352Hom.: 5 Cov.: 38 AF XY: 0.000155 AC XY: 107AN XY: 690498
GnomAD4 genome AF: 0.000386 AC: 58AN: 150152Hom.: 0 Cov.: 30 AF XY: 0.000436 AC XY: 32AN XY: 73326
ClinVar
Submissions by phenotype
not provided Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at