NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His) AND Hereditary pancreatitis

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Aug 1, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000012657.35

Allele description [Variation Report for NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His)]

NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His)

Genes:

TRB:T cell receptor beta locus [Gene - HGNC]
PRSS1:serine protease 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His)

Other names:

PRSS1, ARG122HIS, 365GC-AT

HGVS:

NC_000007.14:g.142751938_142751939delinsAT
NG_001333.2:g.585606_585607delinsAT
NG_008307.3:g.7455_7456delinsAT
NM_002769.5:c.365_366delinsATMANE SELECT
NP_002760.1:p.Arg122His
LRG_1013t1:c.365_366delinsAT
LRG_1013:g.7455_7456delinsAT
LRG_1013p1:p.Arg122His
NC_000007.13:g.142459789_142459790delinsAT
NG_008307.2:g.7460_7461delGCinsAT
NM_002769.4:c.365_366delGCinsAT
p.R122H

Protein change:

R122H; ARG122HIS

Links:

OMIM: 276000.0008; dbSNP: rs267606982

NCBI 1000 Genomes Browser:

rs267606982

Molecular consequence:

NM_002769.5:c.365_366delinsAT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary pancreatitis (PCTT)
Synonyms:: Hereditary chronic pancreatitis
Identifiers:: MONDO: MONDO:0008185; MedGen: C0238339; Orphanet: 676; OMIM: 167800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032892	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2006)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11702203, 16791840
SCV000196055	Forschungslabor Klinik Innere Medizin A University Medicine Greifswald	no assertion criteria provided	pathogenic	inherited	not provided

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032892

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2006)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000196055

Forschungslabor Klinik Innere Medizin A University Medicine Greifswald

no assertion criteria provided

pathogenic

inherited

not provided

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	inherited	not provided	not provided	not provided	not provided	2	not provided	literature only

Citations

PubMed

Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations.

Chen JM, Montier T, Férec C.

Hum Genet. 2001 Sep;109(3):245-52. Review.

PubMed [citation]

PMID:: 11702203

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Teich N, Rosendahl J, Tóth M, Mössner J, Sahin-Tóth M.

Hum Mutat. 2006 Aug;27(8):721-30. Review.

PubMed [citation]

PMID:: 16791840
PMCID:: PMC2793115

Details of each submission

From OMIM, SCV000032892.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In addition to the originally reported and frequently found R122H mutation due to a single-nucleotide substitution (276000.0001), Chen et al. (2000) identified a GC-to-AT (CGC to CAT; 365-366GC-AT) substitution which also causes an R122H mutation and results in chronic pancreatitis (167800). Teich et al. (2006) interpreted this variant as an example of a gene conversion event, i.e., the substitution of genetic material from another gene.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Forschungslabor Klinik Innere Medizin A University Medicine Greifswald, SCV000196055.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	not provided

Description

Converted during submission to Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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