9-122378015-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000962.4(PTGS1):c.211C>T(p.Pro71Ser) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.000504 in 1,611,488 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000962.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00194 AC: 296AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000669 AC: 167AN: 249466Hom.: 0 AF XY: 0.000519 AC XY: 70AN XY: 134970
GnomAD4 exome AF: 0.000354 AC: 517AN: 1459132Hom.: 3 Cov.: 31 AF XY: 0.000324 AC XY: 235AN XY: 726072
GnomAD4 genome AF: 0.00194 AC: 295AN: 152356Hom.: 0 Cov.: 33 AF XY: 0.00183 AC XY: 136AN XY: 74508
ClinVar
Submissions by phenotype
not provided Uncertain:1
BS1_supporting, PM1_supporting -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at