rs267606982
Variant summary
Our verdict is Pathogenic. Variant got 15 ACMG points: 15P and 0B. PS1_Very_StrongPM1PM2PM5PP5
The NM_002769.5(PRSS1):c.365_366delinsAT(p.Arg122His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Pathogenicin ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R122C) has been classified as Pathogenic.
Frequency
Consequence
NM_002769.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRSS1 | NM_002769.5 | c.365_366delinsAT | p.Arg122His | missense_variant | 3/5 | ENST00000311737.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRSS1 | ENST00000311737.12 | c.365_366delinsAT | p.Arg122His | missense_variant | 3/5 | 1 | NM_002769.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 genome ? Cov.: 30
ClinVar
Submissions by phenotype
Hereditary pancreatitis Pathogenic:2
Pathogenic, no assertion criteria provided | literature only | Forschungslabor Klinik Innere Medizin A University Medicine Greifswald | - | - - |
Pathogenic, no assertion criteria provided | literature only | OMIM | Aug 01, 2006 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at