NM_000762.6:c.22C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000762.6(CYP2A6):c.22C>G(p.Leu8Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. L8L) has been classified as Likely benign.
Frequency
Consequence
NM_000762.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP2A6 | ENST00000301141.10 | c.22C>G | p.Leu8Val | missense_variant | Exon 1 of 9 | 1 | NM_000762.6 | ENSP00000301141.4 | ||
CYP2A6 | ENST00000596719.5 | n.36C>G | non_coding_transcript_exon_variant | Exon 1 of 6 | 1 | |||||
CYP2A6 | ENST00000600495.1 | n.22C>G | non_coding_transcript_exon_variant | Exon 1 of 6 | 1 | ENSP00000472905.1 | ||||
ENSG00000268797 | ENST00000601627.1 | n.118-41586G>C | intron_variant | Intron 1 of 3 | 3 | ENSP00000469533.1 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at