chr7:142459789:G>A Detail (hg19) (PRSS1, TRB)

Information

Genome

Assembly Position
hg19 chr7:142,459,789-142,459,789
hg38 chr7:142,751,938-142,751,938 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000486171.5:c.407G>A ENST00000486171.5:p.Arg136His
ENST00000492062.2:c.365G>A ENST00000492062.2:p.Arg122His
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 276000 OMIM
HGNC 9475 HGNC
Ensembl ENSG00000204983 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic other germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-11-25 criteria provided, multiple submitters, no conflicts Hereditary pancreatitis germline unknown Detail
Pathogenic 2023-06-06 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-20 criteria provided, single submitter PRSS1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.268 Hereditary pancreatitis The R122H and N291 mutations of CT are the most common disease-associated mutati... BeFree 11866271 Detail
0.220 Pancreatitis, Chronic Ever since the discovery that in most patients with hereditary pancreatitis a mu... BeFree 12408512 Detail
0.245 Hereditary pancreatitis Ever since the discovery that in most patients with hereditary pancreatitis a mu... BeFree 12408512 Detail
0.268 Hereditary pancreatitis Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the catio... BeFree 10909845 Detail
0.268 Hereditary pancreatitis The R122H mutation of the cationic trypsinogen was found in patients with heredi... BeFree 17069643 Detail
0.268 Hereditary pancreatitis In 1996, shortly after a locus for hereditary pancreatitis had been mapped to ch... BeFree 19287144 Detail
0.174 Pancreatitis, Chronic Two subjects from HP families (including a 93 year old subject with PRSS1 R122H ... BeFree 16354799 Detail
0.268 Hereditary pancreatitis The majority of patients with hereditary pancreatitis express one of two mutatio... BeFree 12508340 Detail
0.174 Pancreatitis, Chronic The R122H mutation represents the most common point mutation of the cationic try... BeFree 18702646 Detail
0.174 Pancreatitis, Chronic Ever since the discovery that in most patients with hereditary pancreatitis a mu... BeFree 12408512 Detail
0.003 Idiopathic chronic pancreatitis Ten patients were homozygous for N34S, SPINK1 mutations were most common in 'idi... BeFree 12120220 Detail
0.004 acute pancreatitis A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurre... BeFree 21303407 Detail
0.007 acute pancreatitis The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso... BeFree 21303407 Detail
0.414 pancreatitis This problematic trend is notably illustrated by two recent studies that classif... BeFree 20452997 Detail
0.268 Hereditary pancreatitis The R122H mutation represents the most common point mutation of the cationic try... BeFree 18702646 Detail
0.268 Hereditary pancreatitis Based on these findings, we revised the criteria for the diagnosis of HP; (1) re... BeFree 15028953 Detail
0.414 pancreatitis Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and tw... BeFree 17148697 Detail
0.002 acute pancreatitis The study's objective was to assess the association between the PRSS1 R122H and ... BeFree 22699143 Detail
0.414 pancreatitis Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H... BeFree 23474566 Detail
0.174 Pancreatitis, Chronic Based on these findings, we revised the criteria for the diagnosis of HP; (1) re... BeFree 15028953 Detail
0.245 Hereditary pancreatitis The R122H and N291 mutations of CT are the most common disease-associated mutati... BeFree 11866271 Detail
0.414 pancreatitis The 'self-destruct' model proposed for the R122H mutation is discussed in connec... BeFree 10909845 Detail
0.174 Pancreatitis, Chronic Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the... BeFree 22699143 Detail
0.268 Hereditary pancreatitis Since the identification in 1996 of a gain of function missense mutation, R122H,... BeFree 11702203 Detail
0.268 Hereditary pancreatitis The most common mutations in hereditary pancreatitis are R122H, N29I and A16V bu... BeFree 16358943 Detail
0.268 Hereditary pancreatitis An R122H mutation in the cationic trypsinogen gene was identified in this patien... BeFree 11874252 Detail
0.268 Hereditary pancreatitis Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations... BeFree 23474566 Detail
0.003 Hyperparathyroidism, Primary These individuals and 50 patients with pHPT without pancreatitis were analyzed f... BeFree 18076731 Detail
0.268 Hereditary pancreatitis Hereditary pancreatitis (HP) is usually caused by mutations in the cationic tryp... BeFree 11788572 Detail
0.268 Hereditary pancreatitis Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122... BeFree 11729110 Detail
0.268 Hereditary pancreatitis Finally, cathepsin B- catalyzed activation of recombinant human cationic trypsin... BeFree 11932257 Detail
0.268 Hereditary pancreatitis Ever since the discovery that in most patients with hereditary pancreatitis a mu... BeFree 12408512 Detail
0.002 acute pancreatitis The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso... BeFree 21303407 Detail
0.220 Pancreatitis, Chronic Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the... BeFree 22699143 Detail
<0.001 acute pancreatitis The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso... BeFree 21303407 Detail
<0.001 acute pancreatitis A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurre... BeFree 21303407 Detail
0.268 Hereditary pancreatitis Among the known PRSS1 mutations, only the R122H was detected in a single subject... BeFree 11260229 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) AND Hereditary pancreatitis ClinVar Detail
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) AND not provided ClinVar Detail
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) AND PRSS1-related disorder ClinVar Detail
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S ... DisGeNET Detail
Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene e... DisGeNET Detail
Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene e... DisGeNET Detail
Two heterozygous missense mutations, R122H (R117H) and N29I (N21I), in the cationic trypsinogen gene... DisGeNET Detail
The R122H mutation of the cationic trypsinogen was found in patients with hereditary pancreatitis. DisGeNET Detail
In 1996, shortly after a locus for hereditary pancreatitis had been mapped to chromosome 7q35, an ap... DisGeNET Detail
Two subjects from HP families (including a 93 year old subject with PRSS1 R122H without pancreatitis... DisGeNET Detail
The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) i... DisGeNET Detail
The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1... DisGeNET Detail
Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene e... DisGeNET Detail
Ten patients were homozygous for N34S, SPINK1 mutations were most common in 'idiopathic' CP, whereas... DisGeNET Detail
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and heal... DisGeNET Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren... DisGeNET Detail
This problematic trend is notably illustrated by two recent studies that classified the p.A121T PRSS... DisGeNET Detail
The R122H mutation represents the most common point mutation of the cationic trypsinogen gene (PRSS1... DisGeNET Detail
Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chr... DisGeNET Detail
Five mutations (R122H, N29I, A16V, D22G and K23R) in cationic trypsinogen and two mutations (N34S an... DisGeNET Detail
The study's objective was to assess the association between the PRSS1 R122H and N29I and the SPINK1 ... DisGeNET Detail
Low penetrance pancreatitis phenotype in a Venezuelan kindred with a PRSS1 R122H mutation. DisGeNET Detail
Based on these findings, we revised the criteria for the diagnosis of HP; (1) recurrent acute or chr... DisGeNET Detail
The R122H and N291 mutations of CT are the most common disease-associated mutations in HP; the N34S ... DisGeNET Detail
The 'self-destruct' model proposed for the R122H mutation is discussed in connection with the existi... DisGeNET Detail
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexi... DisGeNET Detail
Since the identification in 1996 of a gain of function missense mutation, R122H, in the cationic try... DisGeNET Detail
The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have... DisGeNET Detail
An R122H mutation in the cationic trypsinogen gene was identified in this patient, his brother, and ... DisGeNET Detail
Hereditary pancreatitis is typically caused by the PRSS1 R122H or N29I mutations resulting in high p... DisGeNET Detail
These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the ... DisGeNET Detail
Hereditary pancreatitis (HP) is usually caused by mutations in the cationic trypsinogen (PRSS1) gene... DisGeNET Detail
Nine subjects had the N34S PSTI mutation and 1 had hereditary pancreatitis (R122H, PRSS1). DisGeNET Detail
Finally, cathepsin B- catalyzed activation of recombinant human cationic trypsinogen with hereditary... DisGeNET Detail
Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene e... DisGeNET Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren... DisGeNET Detail
Screening of R122H and N29I mutations in the PRSS1 gene and N34S mutation in the SPINK1 gene in Mexi... DisGeNET Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren... DisGeNET Detail
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and heal... DisGeNET Detail
Among the known PRSS1 mutations, only the R122H was detected in a single subject and the A16V in two... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs111033565 dbSNP
Genome
hg19
Position
chr7:142,459,789-142,459,789
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121344
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.2964135021097044E-5
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