1-153341677-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020393.4(PGLYRP4):c.575G>A(p.Gly192Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000372 in 1,613,638 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. G192V) has been classified as Likely benign.
Frequency
Consequence
NM_020393.4 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 |
---|---|---|---|---|---|---|---|
PGLYRP4 | NM_020393.4 | c.575G>A | p.Gly192Glu | missense_variant | 6/9 | ENST00000359650.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PGLYRP4 | ENST00000359650.10 | c.575G>A | p.Gly192Glu | missense_variant | 6/9 | 1 | NM_020393.4 | P4 | |
PGLYRP4 | ENST00000368739.3 | c.563G>A | p.Gly188Glu | missense_variant | 6/9 | 5 | A1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 34
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1461460Hom.: 0 Cov.: 46 AF XY: 0.00000138 AC XY: 1AN XY: 727042
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152178Hom.: 0 Cov.: 34 AF XY: 0.0000269 AC XY: 2AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at