rs1058172
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_000106.6(CYP2D6):āc.1094G>Cā(p.Arg365Pro) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a pathogenic 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. R365H) has been classified as Likely benign.
Frequency
Consequence
NM_000106.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP2D6 | NM_000106.6 | c.1094G>C | p.Arg365Pro | missense_variant | 7/9 | ENST00000645361.2 | NP_000097.3 | |
CYP2D6 | NM_001025161.3 | c.941G>C | p.Arg314Pro | missense_variant | 6/8 | NP_001020332.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2D6 | ENST00000645361.2 | c.1094G>C | p.Arg365Pro | missense_variant | 7/9 | NM_000106.6 | ENSP00000496150 | P1 | ||
NDUFA6-DT | ENST00000439129.5 | n.1718+2119C>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 147434Hom.: 0 Cov.: 34 FAILED QC
GnomAD3 exomes AF: 0.00000436 AC: 1AN: 229594Hom.: 0 AF XY: 0.00000803 AC XY: 1AN XY: 124470
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 7.10e-7 AC: 1AN: 1407856Hom.: 0 Cov.: 64 AF XY: 0.00 AC XY: 0AN XY: 701220
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000136 AC: 2AN: 147434Hom.: 0 Cov.: 34 AF XY: 0.0000278 AC XY: 2AN XY: 72014
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at