rs587777966
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 3P and 2B. PM2PP2BP4_Moderate
The ENST00000454220.7(PPP2R1A):c.140C>T(p.Pro47Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000656 in 152,368 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/12 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. P47R) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000454220.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPP2R1A | NM_014225.6 | c.78+62C>T | intron_variant | ENST00000322088.11 | NP_055040.2 | |||
PPP2R1A | NR_033500.2 | n.123+62C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPP2R1A | ENST00000322088.11 | c.78+62C>T | intron_variant | 1 | NM_014225.6 | ENSP00000324804.6 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152250Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000732 AC: 1AN: 136568Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 73650
GnomAD4 exome Cov.: 24
GnomAD4 genome AF: 0.00000656 AC: 1AN: 152368Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74510
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at