NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) AND Pancreatitis, chronic, susceptibility to

Clinical significance:risk factor (Last evaluated: Feb 1, 2008)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000008657.2

Allele description [Variation Report for NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)]

NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)

Gene:
CTRC:chymotrypsin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.21
Genomic location:
Preferred name:
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
HGVS:
  • NC_000001.11:g.15445717C>T
  • NG_009253.1:g.12275C>T
  • NM_007272.3:c.760C>TMANE SELECT
  • NP_009203.2:p.Arg254Trp
  • NP_009203.2:p.Arg254Trp
  • NC_000001.10:g.15772212C>T
  • NM_007272.2:c.760C>T
  • Q99895:p.Arg254Trp
Protein change:
R254W; ARG254TRP
Links:
UniProtKB: Q99895#VAR_043529; OMIM: 601405.0001; dbSNP: rs121909293
NCBI 1000 Genomes Browser:
rs121909293
Molecular consequence:
  • NM_007272.3:c.760C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000028866OMIMno assertion criteria providedrisk factor
(Feb 1, 2008)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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, SCV000028866.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a study of 901 individuals with idiopathic or hereditary chronic pancreatitis (167800) and 2,804 control subjects of German origin, Rosendahl et al. (2008) found that a 760C-T transition in exon 7 of the CTRC gene, resulting in an arg254-to-trp amino acid substitution (R254W), was significantly overrepresented among affected individuals (19/901; 2.1%, P = 0.0004) compared to controls (18/2804; 0.6%). Investigation of an independent cohort of 348 German individuals with alcohol-related chronic pancreatitis and 432 controls confirmed this finding (2.3% in affected individuals vs 0.5% in controls). Enrichment of the R254W variant in 71 Indian subjects with tropical pancreatitis (608189) did not reach statistical significance.

Masson et al. (2008) sequenced the CTRC gene in 287 white French patients with idiopathic chronic pancreatitis and identified the R254W mutation in 5 sporadic patients and 1 of 350 controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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