rs3027172
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000581703.1(PER1):āc.28T>Cā(p.Trp10Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.168 in 152,514 control chromosomes in the GnomAD database, including 2,498 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/9 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
ENST00000581703.1 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 |
---|---|---|---|---|---|---|---|
PER1 | NM_002616.3 | upstream_gene_variant | ENST00000317276.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PER1 | ENST00000317276.9 | upstream_gene_variant | 1 | NM_002616.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.168 AC: 25504AN: 152098Hom.: 2494 Cov.: 33
GnomAD3 exomes AF: 0.382 AC: 71AN: 186Hom.: 10 AF XY: 0.412 AC XY: 28AN XY: 68
GnomAD4 exome AF: 0.168 AC: 50AN: 298Hom.: 4 Cov.: 0 AF XY: 0.188 AC XY: 26AN XY: 138
GnomAD4 genome ? AF: 0.168 AC: 25514AN: 152216Hom.: 2494 Cov.: 33 AF XY: 0.162 AC XY: 12085AN XY: 74426
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at