rs1794108
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002817.4(PSMD13):c.611G>A(p.Gly204Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002817.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PSMD13 | NM_002817.4 | c.611G>A | p.Gly204Glu | missense_variant | 8/13 | ENST00000532097.6 | NP_002808.3 | |
PSMD13 | NM_175932.3 | c.617G>A | p.Gly206Glu | missense_variant | 6/11 | NP_787128.2 | ||
PSMD13 | XM_011520235.4 | c.611G>A | p.Gly204Glu | missense_variant | 8/11 | XP_011518537.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PSMD13 | ENST00000532097.6 | c.611G>A | p.Gly204Glu | missense_variant | 8/13 | 1 | NM_002817.4 | ENSP00000436186.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at