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NM_004817.4(TJP2):c.766_769del (p.Ala256fs) AND Cholestasis, progressive familial intrahepatic, 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2014
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:
RCV000128570.4

Allele description [Variation Report for NM_004817.4(TJP2):c.766_769del (p.Ala256fs)]

NM_004817.4(TJP2):c.766_769del (p.Ala256fs)

Gene:
TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
9q21.11
Genomic location:
Preferred name:
NM_004817.4(TJP2):c.766_769del (p.Ala256fs)
HGVS:
  • NC_000009.12:g.69221310_69221313del
  • NG_016342.2:g.125404_125407del
  • NM_001170414.2:c.697_700del
  • NM_001170415.1:c.778_781del
  • NM_001170416.2:c.859_862del
  • NM_001369870.1:c.697_700del
  • NM_001369871.1:c.697_700del
  • NM_001369872.1:c.766_769del
  • NM_001369873.1:c.766_769del
  • NM_001369874.1:c.778_781del
  • NM_001369875.1:c.778_781del
  • NM_004817.4:c.766_769delMANE SELECT
  • NM_201629.3:c.766_769del
  • NP_001163885.1:p.Ala233fs
  • NP_001163886.1:p.Ala260fs
  • NP_001163887.1:p.Ala287fs
  • NP_001356799.1:p.Ala233fs
  • NP_001356800.1:p.Ala233fs
  • NP_001356801.1:p.Ala256fs
  • NP_001356802.1:p.Ala256fs
  • NP_001356803.1:p.Ala260fs
  • NP_001356804.1:p.Ala260fs
  • NP_004808.2:p.Ala256fs
  • NP_963923.1:p.Ala256fs
  • LRG_1201t1:c.766_769del
  • LRG_1201:g.125404_125407del
  • LRG_1201p1:p.Ala256fs
  • NC_000009.11:g.71836226_71836229del
  • NG_016342.1:g.105003_105006del
  • NM_004817.3:c.766_769del
Protein change:
A233fs
Links:
OMIM: 607709.0002; dbSNP: rs587777518
NCBI 1000 Genomes Browser:
rs587777518
Molecular consequence:
  • NM_001170414.2:c.697_700del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001170415.1:c.778_781del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001170416.2:c.859_862del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369870.1:c.697_700del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369871.1:c.697_700del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369872.1:c.766_769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369873.1:c.766_769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369874.1:c.778_781del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369875.1:c.778_781del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004817.4:c.766_769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201629.3:c.766_769del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cholestasis, progressive familial intrahepatic, 4
Identifiers:
MONDO: MONDO:0014381; MedGen: C2931067; Orphanet: 79304; OMIM: 615878

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172218OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2014) 		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 TJP2 cause progressive cholestatic liver disease.

Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G; University of Washington Center for Mendelian Genomics., Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, et al.

Nat Genet. 2014 Apr;46(4):326-8. doi: 10.1038/ng.2918. Epub 2014 Mar 9.

PubMed [citation]
PMID:
24614073
PMCID:
PMC4061468

Details of each submission

From OMIM, SCV000172218.2

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

Description

In a patient, born of consanguineous parents, with progressive familial intrahepatic cholestasis-4 (PFIC4; 615878), Sambrotta et al. (2014) identified a homozygous 4-bp deletion (c.766_769delGCCT) in exon 5 of the TJP2 gene, resulting in a frameshift and premature termination (Ala256ThrfsTer54).

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

Last Updated: Apr 15, 2024