rs72547516
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000761.5(CYP1A2):āc.1156A>Gā(p.Ile386Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00106 in 1,613,764 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I386F) has been classified as Likely benign.
Frequency
Consequence
NM_000761.5 missense
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 |
---|---|---|---|---|---|---|---|
CYP1A2 | NM_000761.5 | c.1156A>G | p.Ile386Val | missense_variant | 5/7 | ENST00000343932.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP1A2 | ENST00000343932.5 | c.1156A>G | p.Ile386Val | missense_variant | 5/7 | 1 | NM_000761.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000750 AC: 114AN: 151938Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00131 AC: 329AN: 251252Hom.: 2 AF XY: 0.00155 AC XY: 211AN XY: 135792
GnomAD4 exome AF: 0.00110 AC: 1602AN: 1461708Hom.: 7 Cov.: 32 AF XY: 0.00121 AC XY: 878AN XY: 727162
GnomAD4 genome ? AF: 0.000756 AC: 115AN: 152056Hom.: 0 Cov.: 32 AF XY: 0.000902 AC XY: 67AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at