22-42126682-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000106.6(CYP2D6):āc.1386G>Cā(p.Gln462His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000308 in 1,602,978 control chromosomes in the GnomAD database, including 22 homozygotes. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_000106.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000996 AC: 15AN: 150552Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.000120 AC: 28AN: 233624Hom.: 1 AF XY: 0.000119 AC XY: 15AN XY: 126374
GnomAD4 exome AF: 0.000330 AC: 479AN: 1452312Hom.: 21 Cov.: 38 AF XY: 0.000337 AC XY: 243AN XY: 721704
GnomAD4 genome AF: 0.0000996 AC: 15AN: 150666Hom.: 1 Cov.: 31 AF XY: 0.0000815 AC XY: 6AN XY: 73626
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1386G>C (p.Q462H) alteration is located in exon 9 (coding exon 9) of the CYP2D6 gene. This alteration results from a G to C substitution at nucleotide position 1386, causing the glutamine (Q) at amino acid position 462 to be replaced by a histidine (H). 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