22-42126744-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_000106.6(CYP2D6):c.1324G>A(p.Ala442Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000187 in 1,551,552 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000106.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150186Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000202 AC: 3AN: 148164Hom.: 0 AF XY: 0.0000127 AC XY: 1AN XY: 78942
GnomAD4 exome AF: 0.0000193 AC: 27AN: 1401366Hom.: 1 Cov.: 39 AF XY: 0.0000217 AC XY: 15AN XY: 691730
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150186Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 73320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1324G>A (p.A442T) alteration is located in exon 9 (coding exon 9) of the CYP2D6 gene. This alteration results from a G to A substitution at nucleotide position 1324, causing the alanine (A) at amino acid position 442 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at