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NM_004817.4(TJP2):c.115-2A>C AND Cholestasis, progressive familial intrahepatic, 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 15, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000993662.2

Allele description [Variation Report for NM_004817.4(TJP2):c.115-2A>C]

NM_004817.4(TJP2):c.115-2A>C

Gene:
TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.11
Genomic location:
Preferred name:
NM_004817.4(TJP2):c.115-2A>C
HGVS:
  • NC_000009.12:g.69216337A>C
  • NG_016342.2:g.120431A>C
  • NM_001170414.2:c.46-2A>C
  • NM_001170415.1:c.127-2A>C
  • NM_001170416.2:c.208-2A>C
  • NM_001369870.1:c.46-2A>C
  • NM_001369871.1:c.46-2A>C
  • NM_001369872.1:c.115-2A>C
  • NM_001369873.1:c.115-2A>C
  • NM_001369874.1:c.127-2A>C
  • NM_001369875.1:c.127-2A>C
  • NM_004817.4:c.115-2A>CMANE SELECT
  • NM_201629.3:c.115-2A>C
  • LRG_1201t1:c.115-2A>C
  • LRG_1201:g.120431A>C
  • NC_000009.11:g.71831253A>C
Links:
dbSNP: rs1588080674
NCBI 1000 Genomes Browser:
rs1588080674
Molecular consequence:
  • NM_001170414.2:c.46-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001170415.1:c.127-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001170416.2:c.208-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369870.1:c.46-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369871.1:c.46-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369872.1:c.115-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369873.1:c.115-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369874.1:c.127-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001369875.1:c.127-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004817.4:c.115-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_201629.3:c.115-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001146794The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 15, 2019) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From The Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, SCV001146794.1

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

Last Updated: Jun 23, 2024