rs1138439
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003712.4(PLPP2):c.539C>T(p.Ala180Val) variant causes a missense, splice region change. The variant allele was found at a frequency of 0.421 in 1,610,080 control chromosomes in the GnomAD database, including 145,595 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. 2/2 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003712.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PLPP2 | NM_003712.4 | c.539C>T | p.Ala180Val | missense_variant, splice_region_variant | 4/6 | ENST00000434325.7 | |
PLPP2 | NM_177543.3 | c.602C>T | p.Ala201Val | missense_variant, splice_region_variant | 4/6 | ||
PLPP2 | NM_177526.3 | c.371C>T | p.Ala124Val | missense_variant, splice_region_variant | 4/6 | ||
PLPP2 | XM_011528396.3 | c.557C>T | p.Ala186Val | missense_variant, splice_region_variant | 4/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PLPP2 | ENST00000434325.7 | c.539C>T | p.Ala180Val | missense_variant, splice_region_variant | 4/6 | 1 | NM_003712.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.435 AC: 65883AN: 151512Hom.: 14656 Cov.: 30
GnomAD3 exomes AF: 0.413 AC: 103318AN: 249906Hom.: 22632 AF XY: 0.413 AC XY: 55831AN XY: 135120
GnomAD4 exome AF: 0.419 AC: 611676AN: 1458450Hom.: 130940 Cov.: 39 AF XY: 0.419 AC XY: 304096AN XY: 725694
GnomAD4 genome ? AF: 0.435 AC: 65904AN: 151630Hom.: 14655 Cov.: 30 AF XY: 0.436 AC XY: 32309AN XY: 74140
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at