1-186674636-A-G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_000963.4(PTGS2):c.1532T>C(p.Val511Ala) variant causes a missense change. The variant allele was found at a frequency of 0.00438 in 1,614,204 control chromosomes in the GnomAD database, including 151 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/22 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000963.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0138 AC: 2103AN: 152196Hom.: 45 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.00762 AC: 1915AN: 251462 AF XY: 0.00802 show subpopulations
GnomAD4 exome AF: 0.00339 AC: 4955AN: 1461890Hom.: 104 Cov.: 31 AF XY: 0.00417 AC XY: 3029AN XY: 727246 show subpopulations
GnomAD4 genome AF: 0.0139 AC: 2115AN: 152314Hom.: 47 Cov.: 33 AF XY: 0.0138 AC XY: 1031AN XY: 74488 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at