NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) AND Cholestasis, progressive familial intrahepatic, 4

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 29, 2019
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:: RCV000984952.1

Allele description [Variation Report for NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)]

NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)

Gene:

TJP2:tight junction protein 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q21.11

Genomic location:

Preferred name:

NM_004817.4(TJP2):c.570_574dup (p.Ser192fs)

HGVS:

NC_000009.12:g.69221114_69221118dup
NG_016342.1:g.104807_104811dup
NG_016342.2:g.125208_125212dup
NM_001170414.2:c.501_505dup
NM_001170415.1:c.582_586dup
NM_001170416.2:c.663_667dup
NM_001369870.1:c.501_505dup
NM_001369871.1:c.501_505dup
NM_001369872.1:c.570_574dup
NM_001369873.1:c.570_574dup
NM_001369874.1:c.582_586dup
NM_001369875.1:c.582_586dup
NM_004817.4:c.570_574dupMANE SELECT
NM_201629.3:c.570_574dup
NP_001163885.1:p.Ser169fs
NP_001163886.1:p.Ser196fs
NP_001163887.1:p.Ser223fs
NP_001356799.1:p.Ser169fs
NP_001356800.1:p.Ser169fs
NP_001356801.1:p.Ser192fs
NP_001356802.1:p.Ser192fs
NP_001356803.1:p.Ser196fs
NP_001356804.1:p.Ser196fs
NP_004808.2:p.Ser192fs
NP_963923.1:p.Ser192fs
LRG_1201t1:c.570_574dup
LRG_1201:g.125208_125212dup
LRG_1201p1:p.Ser192fs
NC_000009.11:g.71836030_71836034dup
NM_001170416.1:c.663_667dup
NM_004817.3:c.570_574dupCCTCA

Protein change:

S169fs

Links:

dbSNP: rs886041948

NCBI 1000 Genomes Browser:

rs886041948

Molecular consequence:

NM_001170414.2:c.501_505dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001170415.1:c.582_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001170416.2:c.663_667dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369870.1:c.501_505dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369871.1:c.501_505dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369872.1:c.570_574dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369873.1:c.570_574dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369874.1:c.582_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369875.1:c.582_586dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004817.4:c.570_574dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_201629.3:c.570_574dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001132866	Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	no assertion criteria provided	Likely pathogenic (Jan 29, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001132866

Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

no assertion criteria provided

Likely pathogenic
(Jan 29, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001132866.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 5, 2022

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