NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) AND Pancreatitis, chronic, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Feb 1, 2008
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:: RCV002267727.8

Allele description [Variation Report for NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)]

NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)

Gene:

CTRC:chymotrypsin C [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p36.21

Genomic location:

Preferred name:

NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)

HGVS:

NC_000001.11:g.15445695_15445718del
NG_009253.1:g.12253_12276del
NM_007272.3:c.738_761delMANE SELECT
NP_009203.2:p.Lys247_Arg254del
NP_009203.2:p.Lys247_Arg254del
NC_000001.10:g.15772183_15772206del
NC_000001.10:g.15772190_15772213del
NM_007272.2:c.738_761del24
NM_007272.2:c.738_761delCAAGAAGCCGGTAGTCTACACCCG

Links:

OMIM: 601405.0002; dbSNP: rs515726210

NCBI 1000 Genomes Browser:

rs515726210

Molecular consequence:

NM_007272.3:c.738_761del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Pancreatitis, chronic, susceptibility to
Identifiers:: MedGen: C1969419

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028867	OMIM	no assertion criteria provided	risk factor (Feb 1, 2008)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 18059268, 18172691

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028867

OMIM

no assertion criteria provided

risk factor
(Feb 1, 2008)

germline

literature only

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

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

Citations

PubMed

Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.

Rosendahl J, Witt H, Szmola R, Bhatia E, Ozsvári B, Landt O, Schulz HU, Gress TM, Pfützer R, Löhr M, Kovacs P, Blüher M, Stumvoll M, Choudhuri G, Hegyi P, te Morsche RH, Drenth JP, Truninger K, Macek M Jr, Puhl G, Witt U, Schmidt H, et al.

Nat Genet. 2008 Jan;40(1):78-82. Epub 2007 Dec 2.

PubMed [citation]

PMID:: 18059268
PMCID:: PMC2650829

Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis.

Masson E, Chen JM, Scotet V, Le Maréchal C, Férec C.

Hum Genet. 2008 Feb;123(1):83-91. doi: 10.1007/s00439-007-0459-3. Epub 2008 Jan 3.

PubMed [citation]

PMID:: 18172691

Details of each submission

From OMIM, SCV000028867.1

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

Description

Rosendahl et al. (2008) found that a 24-bp in-frame deletion in exon 7 of the CTRC gene (738_761del24, lys247_arg254del) was significantly overrepresented among 901 individuals of German origin with idiopathic or hereditary chronic pancreatitis (167800) (1.2%) compared to 2,804 German controls (0.1%, P = 0.00003). Allele frequency was 0.6% among 348 German individuals with alcohol-related chronic pancreatitis and 0.2% among 432 controls. This variant was not found among 71 Indian subjects with tropical pancreatitis (608189) and 84 controls of Indian origin.

Masson et al. (2008) sequenced the CTRC gene in 287 white French patients with idiopathic chronic pancreatitis and identified the 24-bp deletion at nucleotide 738 in 2 sporadic patients and 1 of 350 controls.

#	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

Last Updated: Nov 24, 2024

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