rs500079
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014330.5(PPP1R15A):c.1789A>C(p.Thr597Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 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. T597A) has been classified as Likely benign.
Frequency
Consequence
NM_014330.5 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 |
---|---|---|---|---|---|---|---|
PPP1R15A | NM_014330.5 | c.1789A>C | p.Thr597Pro | missense_variant | 3/3 | ENST00000200453.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP1R15A | ENST00000200453.6 | c.1789A>C | p.Thr597Pro | missense_variant | 3/3 | 1 | NM_014330.5 | P2 | |
PPP1R15A | ENST00000704027.1 | c.1837A>C | p.Thr613Pro | missense_variant | 2/2 | A2 | |||
PPP1R15A | ENST00000704026.1 | c.1504A>C | p.Thr502Pro | missense_variant | 4/4 | A2 | |||
PPP1R15A | ENST00000600406.2 | c.*644A>C | 3_prime_UTR_variant | 2/2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 38
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at