GRCh37/hg19 11q14.1(chr11:78823168-78890251)x1 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 18, 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:: RCV001006419.2

Allele description [Variation Report for GRCh37/hg19 11q14.1(chr11:78823168-78890251)x1]

GRCh37/hg19 11q14.1(chr11:78823168-78890251)x1

Gene:: TENM4:teneurin transmembrane protein 4 [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 11q14.1
Genomic location:: Chr11: 78823168 - 78890251 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 11q14.1(chr11:78823168-78890251)x1
HGVS:: NC_000011.9:g.(?_78823168)_(78890251_?)del
This HGVS expression did not pass validation

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

regulating synaptic membrane exocytosis protein 2 isoform X24 [Scyliorhinus cani...
regulating synaptic membrane exocytosis protein 2 isoform X24 [Scyliorhinus canicula]
gi|1952490447|ref|XP_038665941.1|

Protein
regulating synaptic membrane exocytosis protein 2 isoform X44 [Scyliorhinus cani...
regulating synaptic membrane exocytosis protein 2 isoform X44 [Scyliorhinus canicula]
gi|1952490490|ref|XP_038665962.1|

Protein
Tmem134-ps1 transmembrane protein 134, pseudogene 1 [Rattus norvegicus]
Tmem134-ps1 transmembrane protein 134, pseudogene 1 [Rattus norvegicus]
Gene ID:688443

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001165977	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (Oct 18, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001165977

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(Oct 18, 2019)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001165977.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine