NM_014906.5:c.344C>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014906.5(PPM1E):c.344C>A(p.Pro115Gln) 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. P115L) has been classified as Uncertain significance.
Frequency
Consequence
NM_014906.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPM1E | NM_014906.5 | c.344C>A | p.Pro115Gln | missense_variant | Exon 1 of 7 | ENST00000308249.4 | NP_055721.3 | |
PPM1E | NR_048561.1 | n.473C>A | non_coding_transcript_exon_variant | Exon 1 of 6 | ||||
LOC105371843 | XR_007065865.1 | n.-236G>T | upstream_gene_variant | |||||
LOC105371843 | XR_007065866.1 | n.-231G>T | upstream_gene_variant |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1220244Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 594126
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.