rs34826503
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000767.5(CYP2B6):c.1006C>T(p.Arg336Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000165 in 1,614,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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. R336H) has been classified as Uncertain significance.
Frequency
Consequence
NM_000767.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.1006C>T | p.Arg336Cys | missense_variant | 7/9 | ENST00000324071.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2B6 | ENST00000324071.10 | c.1006C>T | p.Arg336Cys | missense_variant | 7/9 | 1 | NM_000767.5 | P1 | |
CYP2B6 | ENST00000597612.1 | n.501C>T | non_coding_transcript_exon_variant | 2/3 | 1 | ||||
CYP2B6 | ENST00000593831.1 | c.298C>T | p.Arg100Cys | missense_variant | 3/5 | 2 | |||
CYP2B6 | ENST00000598834.2 | c.*447C>T | 3_prime_UTR_variant, NMD_transcript_variant | 8/10 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000802 AC: 122AN: 152134Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000215 AC: 54AN: 251324Hom.: 0 AF XY: 0.000155 AC XY: 21AN XY: 135836
GnomAD4 exome AF: 0.0000992 AC: 145AN: 1461864Hom.: 0 Cov.: 32 AF XY: 0.0000839 AC XY: 61AN XY: 727228
GnomAD4 genome AF: 0.000801 AC: 122AN: 152252Hom.: 0 Cov.: 31 AF XY: 0.000806 AC XY: 60AN XY: 74440
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at