NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs) 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:: RCV000004384.4

Allele description [Variation Report for NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs)]

NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs)

Gene:

TMPRSS15:transmembrane serine protease 15 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

21q21.1

Genomic location:

Preferred name:

NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs)

HGVS:

NC_000021.9:g.18279020_18279021del
NG_012207.1:g.129633_129634del
NM_002772.3:c.2707_2708delMANE SELECT
NP_002763.3:p.Val903fs
NC_000021.8:g.19651337_19651338del
NM_002772.2:c.2707_2708delGT

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

V903fs

Links:

OMIM: 606635.0004; dbSNP: rs780802518

NCBI 1000 Genomes Browser:

rs780802518

Molecular consequence:

NM_002772.3:c.2707_2708del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024556	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024556

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2002)

germline

literature only

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

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

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, SCV000024556.3

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

Description

For discussion of the 2-bp deletion in the PRSS7 gene (2707delGT) that was found in compound heterozygous state in a patient with enterokinase deficiency (226200) by Holzinger et al. (2002), see 606635.0003.

#	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: Feb 20, 2024

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