rs2306606
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000767.5(CYP2B6):c.964+142C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000122 in 816,898 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.
Frequency
Consequence
NM_000767.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2B6 | ENST00000324071.10 | c.964+142C>A | intron_variant | Intron 6 of 8 | 1 | NM_000767.5 | ENSP00000324648.2 | |||
CYP2B6 | ENST00000597612.1 | n.459+142C>A | intron_variant | Intron 1 of 2 | 1 | |||||
CYP2B6 | ENST00000593831.1 | c.257-2021C>A | intron_variant | Intron 2 of 4 | 2 | ENSP00000470582.1 | ||||
CYP2B6 | ENST00000598834.2 | n.*405+142C>A | intron_variant | Intron 7 of 9 | 5 | ENSP00000496294.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 0.00000122 AC: 1AN: 816898Hom.: 0 AF XY: 0.00000239 AC XY: 1AN XY: 418234
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.