chr19-14473881-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000955.3(PTGER1):c.440C>T(p.Ala147Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000204 in 1,275,398 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000955.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PTGER1 | NM_000955.3 | c.440C>T | p.Ala147Val | missense_variant | 2/3 | ENST00000292513.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PTGER1 | ENST00000292513.4 | c.440C>T | p.Ala147Val | missense_variant | 2/3 | 1 | NM_000955.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000268 AC: 4AN: 149310Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000195 AC: 22AN: 1126088Hom.: 1 Cov.: 31 AF XY: 0.0000276 AC XY: 15AN XY: 544016
GnomAD4 genome ? AF: 0.0000268 AC: 4AN: 149310Hom.: 0 Cov.: 32 AF XY: 0.0000275 AC XY: 2AN XY: 72822
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 16, 2021 | The c.440C>T (p.A147V) alteration is located in exon 2 (coding exon 1) of the PTGER1 gene. This alteration results from a C to T substitution at nucleotide position 440, causing the alanine (A) at amino acid position 147 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at