rs267608310
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000106.6(CYP2D6):c.254C>T(p.Ala85Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000332 in 1,598,450 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
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.254C>T | p.Ala85Val | missense_variant | 2/9 | ENST00000645361.2 | NP_000097.3 | |
CYP2D6 | NM_001025161.3 | c.254C>T | p.Ala85Val | missense_variant | 2/8 | NP_001020332.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2D6 | ENST00000645361.2 | c.254C>T | p.Ala85Val | missense_variant | 2/9 | NM_000106.6 | ENSP00000496150.1 |
Frequencies
GnomAD3 genomes AF: 0.0000266 AC: 4AN: 150328Hom.: 0 Cov.: 28
GnomAD3 exomes AF: 0.0000394 AC: 9AN: 228594Hom.: 0 AF XY: 0.0000317 AC XY: 4AN XY: 126254
GnomAD4 exome AF: 0.0000338 AC: 49AN: 1448122Hom.: 1 Cov.: 34 AF XY: 0.0000236 AC XY: 17AN XY: 720610
GnomAD4 genome AF: 0.0000266 AC: 4AN: 150328Hom.: 0 Cov.: 28 AF XY: 0.0000273 AC XY: 2AN XY: 73348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at