chr14-35099380-A-G
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_ModeratePP5_Moderate
The NM_017917.4(PPP2R3C):āc.578T>Cā(p.Leu193Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000189 in 1,590,148 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Pathogenic (ā ).
Frequency
Consequence
NM_017917.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPP2R3C | NM_017917.4 | c.578T>C | p.Leu193Ser | missense_variant | 7/13 | ENST00000261475.10 | |
LOC101927178 | NR_110415.1 | n.480-272A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPP2R3C | ENST00000261475.10 | c.578T>C | p.Leu193Ser | missense_variant | 7/13 | 1 | NM_017917.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152224Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1437924Hom.: 0 Cov.: 30 AF XY: 0.00000140 AC XY: 1AN XY: 715008
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152224Hom.: 0 Cov.: 31 AF XY: 0.0000134 AC XY: 1AN XY: 74364
ClinVar
Submissions by phenotype
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy Pathogenic:2
Pathogenic, criteria provided, single submitter | clinical testing | School of Medicine, Marmara University | - | Syndromic 46, XY Gonadal Dysgenesis and Impaired Spermatogenesis in humans - |
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 31, 2022 | - - |
Spermatogenic failure 36 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