rs10462021
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001377275.1(PER3):āc.3473A>Gā(p.His1158Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.182 in 1,613,086 control chromosomes in the GnomAD database, including 28,349 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001377275.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PER3 | NM_001377275.1 | c.3473A>G | p.His1158Arg | missense_variant | 21/22 | ENST00000377532.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PER3 | ENST00000377532.8 | c.3473A>G | p.His1158Arg | missense_variant | 21/22 | 1 | NM_001377275.1 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.157 AC: 23881AN: 152092Hom.: 2130 Cov.: 32
GnomAD3 exomes AF: 0.169 AC: 42547AN: 251126Hom.: 4125 AF XY: 0.171 AC XY: 23175AN XY: 135734
GnomAD4 exome AF: 0.185 AC: 270122AN: 1460876Hom.: 26218 Cov.: 32 AF XY: 0.184 AC XY: 134045AN XY: 726730
GnomAD4 genome ? AF: 0.157 AC: 23911AN: 152210Hom.: 2131 Cov.: 32 AF XY: 0.159 AC XY: 11856AN XY: 74420
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at