19-813642-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001270366.2(PLPPR3):c.1085G>A(p.Arg362His) variant causes a missense change. The variant allele was found at a frequency of 0.0000065 in 1,538,916 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001270366.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PLPPR3 | ENST00000520876.8 | c.1085G>A | p.Arg362His | missense_variant | Exon 8 of 8 | 1 | NM_001270366.2 | ENSP00000430297.1 | ||
PLPPR3 | ENST00000359894.6 | c.1169G>A | p.Arg390His | missense_variant | Exon 7 of 7 | 1 | ENSP00000352962.2 | |||
MIR3187 | ENST00000583431.1 | n.59C>T | non_coding_transcript_exon_variant | Exon 1 of 1 | 6 | |||||
PLPPR3 | ENST00000517665.2 | c.*114G>A | downstream_gene_variant | 3 | ENSP00000430544.3 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000757 AC: 1AN: 132038Hom.: 0 AF XY: 0.0000139 AC XY: 1AN XY: 71744
GnomAD4 exome AF: 0.00000649 AC: 9AN: 1386890Hom.: 0 Cov.: 35 AF XY: 0.00000730 AC XY: 5AN XY: 684474
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152026Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74254
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1169G>A (p.R390H) alteration is located in exon 7 (coding exon 6) of the PLPPR3 gene. This alteration results from a G to A substitution at nucleotide position 1169, causing the arginine (R) at amino acid position 390 to be replaced by a histidine (H). 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