14-35085702-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2PP3_ModeratePP5
The NM_017917.4(PPP2R3C):c.1250G>A(p.Gly417Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Consequence
NM_017917.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP2R3C | NM_017917.4 | c.1250G>A | p.Gly417Glu | missense_variant | 13/13 | ENST00000261475.10 | |
LOC101927178 | NR_110415.1 | n.479+4143C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP2R3C | ENST00000261475.10 | c.1250G>A | p.Gly417Glu | missense_variant | 13/13 | 1 | NM_017917.4 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460088Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726488
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 31, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.