NM_004817.3(TJP2):c.1992-2A>G AND Progressive familial intrahepatic cholestasis 4

Clinical significance:Pathogenic (Last evaluated: Oct 22, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000128573.3

Allele description

NM_004817.3(TJP2):c.1992-2A>G

Gene:
TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.11
Genomic location:
Preferred name:
NM_004817.3(TJP2):c.1992-2A>G
HGVS:
  • NC_000009.12:g.69236947A>G
  • NG_016342.1:g.120640A>G
  • NM_004817.3:c.1992-2A>G
  • NC_000009.11:g.71851863A>G
Nucleotide change:
IVS13AS, A-G, -2
Links:
OMIM: 607709.0005; dbSNP: rs587777521
NCBI 1000 Genomes Browser:
rs587777521
Molecular consequence:
  • NM_004817.3:c.1992-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
Observations:
1

Condition(s)

Name:
Progressive familial intrahepatic cholestasis 4 (PFIC4)
Identifiers:
MedGen: C2931067; Orphanet: 79304; OMIM: 615878
Prevalence:
1-9 / 100 000 79304

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172221OMIMno assertion criteria providedPathogenic
(Apr 1, 2014)
germlineliterature only

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

SCV000226111Emory Genetics Laboratory,Emory Universitycriteria provided, single submitter
Pathogenic
(Oct 22, 2014)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

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, SCV000172221.2

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

Description

In 2 sibs, born of consanguineous parents, with PFIC4 (615878), Sambrotta et al. (2014) identified a homozygous A-to-G transition in intron 13 of the TJP2 gene (c.1992-2A-G), resulting in a splice site mutation and premature termination (Arg664SerfsTer2).

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

From Emory Genetics Laboratory,Emory University, SCV000226111.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 4, 2017