19-40845383-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 4P and 4B. PP3_StrongBS2
The NM_000762.6(CYP2A6):c.1072G>A(p.Glu358Lys) variant causes a missense change. The variant allele was found at a frequency of 0.000031 in 1,611,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
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.1072G>A | p.Glu358Lys | missense_variant | Exon 7 of 9 | 1 | NM_000762.6 | ENSP00000301141.4 | ||
CYP2A6 | ENST00000596719.5 | n.923G>A | non_coding_transcript_exon_variant | Exon 6 of 6 | 1 | |||||
ENSG00000268797 | ENST00000601627.1 | n.117+43968C>T | intron_variant | Intron 1 of 3 | 3 | ENSP00000469533.1 |
Frequencies
GnomAD3 genomes AF: 0.0000595 AC: 9AN: 151304Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000319 AC: 8AN: 251170Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135760
GnomAD4 exome AF: 0.0000281 AC: 41AN: 1460326Hom.: 0 Cov.: 31 AF XY: 0.0000317 AC XY: 23AN XY: 726474
GnomAD4 genome AF: 0.0000595 AC: 9AN: 151304Hom.: 0 Cov.: 31 AF XY: 0.0000542 AC XY: 4AN XY: 73800
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1072G>A (p.E358K) alteration is located in exon 7 (coding exon 7) of the CYP2A6 gene. This alteration results from a G to A substitution at nucleotide position 1072, causing the glutamic acid (E) at amino acid position 358 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at