chr19-41009202-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000767.5(CYP2B6):c.646-17C>G variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000131 in 1,607,082 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 splice_polypyrimidine_tract, intron
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.646-17C>G | splice_polypyrimidine_tract_variant, intron_variant | ENST00000324071.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP2B6 | ENST00000324071.10 | c.646-17C>G | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000767.5 | P1 | |||
CYP2B6 | ENST00000593831.1 | c.257-3096C>G | intron_variant | 2 | |||||
CYP2B6 | ENST00000598834.2 | c.*87-17C>G | splice_polypyrimidine_tract_variant, intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000266 AC: 4AN: 150658Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000407 AC: 10AN: 245904Hom.: 0 AF XY: 0.0000449 AC XY: 6AN XY: 133504
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1456424Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 724852
GnomAD4 genome AF: 0.0000266 AC: 4AN: 150658Hom.: 0 Cov.: 26 AF XY: 0.0000545 AC XY: 4AN XY: 73438
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at