rs3842787
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000962.4(PTGS1):c.50C>T(p.Pro17Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0672 in 1,607,982 control chromosomes in the GnomAD database, including 4,287 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000962.4 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 |
---|---|---|---|---|---|---|---|
PTGS1 | NM_000962.4 | c.50C>T | p.Pro17Leu | missense_variant | 2/11 | ENST00000362012.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTGS1 | ENST00000362012.7 | c.50C>T | p.Pro17Leu | missense_variant | 2/11 | 1 | NM_000962.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0820 AC: 12488AN: 152226Hom.: 635 Cov.: 33
GnomAD3 exomes AF: 0.0588 AC: 14508AN: 246842Hom.: 641 AF XY: 0.0558 AC XY: 7472AN XY: 133852
GnomAD4 exome AF: 0.0657 AC: 95581AN: 1455638Hom.: 3650 Cov.: 38 AF XY: 0.0636 AC XY: 46101AN XY: 724406
GnomAD4 genome ? AF: 0.0820 AC: 12492AN: 152344Hom.: 637 Cov.: 33 AF XY: 0.0822 AC XY: 6125AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at