22-42129770-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 2P and 8B. PM5BP4_StrongBS2
The NM_000106.6(CYP2D6):c.320C>A(p.Thr107Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000236 in 1,608,900 control chromosomes in the GnomAD database, including 16 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 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. T107I) has been classified as Likely benign.
Frequency
Consequence
NM_000106.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2D6 | NM_000106.6 | c.320C>A | p.Thr107Asn | missense_variant | 2/9 | ENST00000645361.2 | NP_000097.3 | |
CYP2D6 | NM_001025161.3 | c.320C>A | p.Thr107Asn | missense_variant | 2/8 | NP_001020332.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2D6 | ENST00000645361.2 | c.320C>A | p.Thr107Asn | missense_variant | 2/9 | NM_000106.6 | ENSP00000496150 | P1 | ||
NDUFA6-DT | ENST00000439129.5 | n.1718+4363G>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000793 AC: 120AN: 151272Hom.: 3 Cov.: 32
GnomAD3 exomes AF: 0.000164 AC: 40AN: 244170Hom.: 6 AF XY: 0.000142 AC XY: 19AN XY: 133408
GnomAD4 exome AF: 0.000178 AC: 260AN: 1457518Hom.: 13 Cov.: 33 AF XY: 0.000165 AC XY: 120AN XY: 725176
GnomAD4 genome AF: 0.000793 AC: 120AN: 151382Hom.: 3 Cov.: 32 AF XY: 0.000933 AC XY: 69AN XY: 73972
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at