rs111033566
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 2 | Problematic; maybe pathogenic for hereditary pancreatitis, maybe not |
| (A;T) | 2 | Problematic; maybe pathogenic for hereditary pancreatitis, maybe not |
| (T;T) | 2 | Problematic; maybe pathogenic for hereditary pancreatitis, maybe not; this is also the genotype seen in 99% of all Ancestry users, so it's a likely miscall in Ancestry data |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 142750600 |
| Gene | PRSS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033566 |
| dbSNP (classic) | rs111033566 |
| ClinGen | rs111033566 |
| ebi | rs111033566 |
| HLI | rs111033566 |
| Exac | rs111033566 |
| Gnomad | rs111033566 |
| Varsome | rs111033566 |
| LitVar | rs111033566 |
| Map | rs111033566 |
| PheGenI | rs111033566 |
| Biobank | rs111033566 |
| 1000 genomes | rs111033566 |
| hgdp | rs111033566 |
| ensembl | rs111033566 |
| geneview | rs111033566 |
| scholar | rs111033566 |
| rs111033566 | |
| pharmgkb | rs111033566 |
| gwascentral | rs111033566 |
| openSNP | rs111033566 |
| 23andMe | rs111033566 |
| SNPshot | rs111033566 |
| SNPdbe | rs111033566 |
| MSV3d | rs111033566 |
| GWAS Ctlg | rs111033566 |
| Max Magnitude | 2 |
aka c.86A>T, p.Asn29Ile and N29I, but also, c.86A>C, p.Asn29Thr and N29T; in older literature, N21I or Asn21Ile
For technical reasons, be aware of the possible disconnect between the literature on hereditary pancreatitis about the mutations at this SNP compared to the frequencies observed for these mutations in populations (i.e. populations that are mostly healthy and where the incidence of pancreatitis is quite low).
Specifically, numerous publications, ClinVar, and the Pancreas Genetics database all state that the N29I/N29T mutation is dominant and pathogenic (for hereditary pancreatitis).
However, allele frequencies reported in dbSNP, taken from ExAC/gnomAD, for the rs111033566(T) allele are around 26-47%, a frequency too high to be a pathogenic mutation for a rare condition. Furthermore, 99% of Ancestry raw data reports rs111033566 as being (T;T). It seems likely that the presence of highly homologous genes and pseudogenes may make this SNP prone to technical miscalls.
| ClinVar | |
|---|---|
| Risk | rs111033566(C;C) Rs111033566(T;T) |
| Alt | rs111033566(C;C) Rs111033566(T;T) |
| Reference | Rs111033566(A;A) |
| Significance | Pathogenic |
| Disease | Hereditary pancreatitis |
| Variation | info |
| Gene | PRSS1 |
| CLNDBN | Hereditary pancreatitis |
| Reversed | 0 |
| HGVS | NC_000007.13:g.142458451A>C; NC_000007.13:g.142458451A>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000031923.1, RCV000012652.22, |
[PMID 185115] [Participation of the beta-receptor system in the genesis of the carotid aortic baroreceptor reflex in the dog (author's transl)].
[PMID 9633818] Mutations of the cationic trypsinogen in hereditary pancreatitis.
[PMID 11719509] Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen.
[PMID 11788572
] Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis.
[PMID 11842279] R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.
[PMID 12011155] Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
