NM_004817.4(TJP2):c.61-7279del AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 3, 2018
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:: RCV000592303.5

Allele description [Variation Report for NM_004817.4(TJP2):c.61-7279del]

NM_004817.4(TJP2):c.61-7279del

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.61-7279del

HGVS:

NC_000009.12:g.69205269del
NG_016342.2:g.109363del
NM_001170414.2:c.-9-7279del
NM_001170415.1:c.72+36del
NM_001170416.2:c.108del
NM_001369870.1:c.-9-7279del
NM_001369871.1:c.-9-7279del
NM_001369872.1:c.61-7279del
NM_001369873.1:c.61-7279del
NM_001369874.1:c.72+36del
NM_001369875.1:c.72+36del
NM_004817.4:c.61-7279delMANE SELECT
NM_201629.3:c.61-7279del
NP_001163887.1:p.Asn37fs
LRG_1201t1:c.61-7279del
LRG_1201:g.109363del
NC_000009.11:g.71820185del
NG_016342.1:g.88962del

Protein change:

N37fs

Links:

dbSNP: rs1452573962

NCBI 1000 Genomes Browser:

rs1452573962

Molecular consequence:

NM_001170416.2:c.108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001170414.2:c.-9-7279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001170415.1:c.72+36del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369870.1:c.-9-7279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369871.1:c.-9-7279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369872.1:c.61-7279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369873.1:c.61-7279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369874.1:c.72+36del - intron variant - [Sequence Ontology: SO:0001627]
NM_001369875.1:c.72+36del - intron variant - [Sequence Ontology: SO:0001627]
NM_004817.4:c.61-7279del - intron variant - [Sequence Ontology: SO:0001627]
NM_201629.3:c.61-7279del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709312	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL ClinVar v180209 classification definitions)	Uncertain significance (Jul 3, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709312

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)

Uncertain significance
(Jul 3, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000709312.2

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

Last Updated: Apr 1, 2023

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