rs3826711
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000767.5(CYP2B6):āc.499C>Gā(p.Pro167Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000239 in 1,613,702 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 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_000767.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP2B6 | NM_000767.5 | c.499C>G | p.Pro167Ala | missense_variant | 4/9 | ENST00000324071.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2B6 | ENST00000324071.10 | c.499C>G | p.Pro167Ala | missense_variant | 4/9 | 1 | NM_000767.5 | P1 | |
CYP2B6 | ENST00000593831.1 | c.256+2473C>G | intron_variant | 2 | |||||
CYP2B6 | ENST00000594187.1 | n.83C>G | non_coding_transcript_exon_variant | 2/2 | 5 | ||||
CYP2B6 | ENST00000598834.2 | c.403C>G | p.Pro135Ala | missense_variant, NMD_transcript_variant | 4/10 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 151992Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000294 AC: 74AN: 251296Hom.: 0 AF XY: 0.000243 AC XY: 33AN XY: 135814
GnomAD4 exome AF: 0.000244 AC: 357AN: 1461592Hom.: 5 Cov.: 32 AF XY: 0.000227 AC XY: 165AN XY: 727094
GnomAD4 genome AF: 0.000184 AC: 28AN: 152110Hom.: 0 Cov.: 31 AF XY: 0.000202 AC XY: 15AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at