rs3218625
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000367468.10(PTGS2):c.1759G>A(p.Gly587Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000491 in 1,613,804 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 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
ENST00000367468.10 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTGS2 | NM_000963.4 | c.1759G>A | p.Gly587Arg | missense_variant | 10/10 | ENST00000367468.10 | NP_000954.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTGS2 | ENST00000367468.10 | c.1759G>A | p.Gly587Arg | missense_variant | 10/10 | 1 | NM_000963.4 | ENSP00000356438 | P1 |
Frequencies
GnomAD3 genomes AF: 0.000645 AC: 98AN: 152008Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.00163 AC: 409AN: 251448Hom.: 3 AF XY: 0.00146 AC XY: 199AN XY: 135898
GnomAD4 exome AF: 0.000475 AC: 695AN: 1461678Hom.: 4 Cov.: 30 AF XY: 0.000441 AC XY: 321AN XY: 727150
GnomAD4 genome AF: 0.000644 AC: 98AN: 152126Hom.: 1 Cov.: 33 AF XY: 0.000726 AC XY: 54AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at