rs367543047
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_000311.5(PRNP):c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC(p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln) variant causes a inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000311.5 inframe_insertion
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 | UniProt |
---|---|---|---|---|---|---|---|
PRNP | NM_000311.5 | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln | inframe_insertion | 2/2 | ENST00000379440.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRNP | ENST00000379440.9 | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln | inframe_insertion | 2/2 | 1 | NM_000311.5 | P1 | |
PRNP | ENST00000424424.2 | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln | inframe_insertion | 2/2 | 1 | P1 | ||
PRNP | ENST00000430350.2 | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln | inframe_insertion | 2/2 | 1 | P1 | ||
PRNP | ENST00000457586.2 | c.178_179insAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGCAGGGCGGTGGTGGCTGGGGGCAGC | p.Gln59_Pro60insGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGlnGlnGlyGlyGlyGlyTrpGlyGln | inframe_insertion | 2/2 | 1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at