rs28399424
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000761.5(CYP1A2):c.1291C>T(p.Arg431Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00127 in 1,614,074 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in Lovd as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000761.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP1A2 | NM_000761.5 | c.1291C>T | p.Arg431Trp | missense_variant | 7/7 | ENST00000343932.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP1A2 | ENST00000343932.5 | c.1291C>T | p.Arg431Trp | missense_variant | 7/7 | 1 | NM_000761.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00141 AC: 214AN: 152152Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00116 AC: 292AN: 251388Hom.: 0 AF XY: 0.00114 AC XY: 155AN XY: 135890
GnomAD4 exome AF: 0.00125 AC: 1829AN: 1461804Hom.: 2 Cov.: 30 AF XY: 0.00116 AC XY: 844AN XY: 727186
GnomAD4 genome ? AF: 0.00141 AC: 214AN: 152270Hom.: 0 Cov.: 31 AF XY: 0.00185 AC XY: 138AN XY: 74454
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at