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NM_002772.3(TMPRSS15):c.2569C>T (p.Arg857Ter) AND Enterokinase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2002
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:
RCV000004382.4

Allele description [Variation Report for NM_002772.3(TMPRSS15):c.2569C>T (p.Arg857Ter)]

NM_002772.3(TMPRSS15):c.2569C>T (p.Arg857Ter)

Gene:
TMPRSS15:transmembrane serine protease 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q21.1
Genomic location:
Preferred name:
NM_002772.3(TMPRSS15):c.2569C>T (p.Arg857Ter)
HGVS:
  • NC_000021.9:g.18281139G>A
  • NG_012207.1:g.127515C>T
  • NM_002772.3:c.2569C>TMANE SELECT
  • NP_002763.3:p.Arg857Ter
  • NC_000021.8:g.19653456G>A
Protein change:
R857*; ARG857TER
Links:
OMIM: 606635.0002; dbSNP: rs121908059
NCBI 1000 Genomes Browser:
rs121908059
Molecular consequence:
  • NM_002772.3:c.2569C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Enterokinase deficiency
Synonyms:
ENTEROPEPTIDASE DEFICIENCY; Deficiency of enteropeptidase; Congenital enteropathy due to enteropeptidase deficiency
Identifiers:
MONDO: MONDO:0009173; MedGen: C0268416; Orphanet: 168601; OMIM: 226200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024554OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2002) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Holzinger A, Maier EM, Bück C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA.

Am J Hum Genet. 2002 Jan;70(1):20-5. Epub 2001 Nov 21.

PubMed [citation]
PMID:
11719902
PMCID:
PMC384888

Details of each submission

From OMIM, SCV000024554.3

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

Description

For discussion of the arg857-to-ter (R857X) mutation in the PRSS7 gene that was found in compound heterozygous state in 2 sibs with enterokinase deficiency (226200) by Holzinger et al. (2002), see 606635.0001.

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

Last Updated: Sep 1, 2024