GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1 AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 25, 2018
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:: RCV001006750.1

Allele description [Variation Report for GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1]

GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1

Genes:: ALG1:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [Gene - OMIM - HGNC]
NAGPA:N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase [Gene - OMIM - HGNC]
C16orf89:chromosome 16 open reading frame 89 [Gene - HGNC]
EEF2KMT:eukaryotic elongation factor 2 lysine methyltransferase [Gene - OMIM - HGNC]
Variant type:: copy number loss
Cytogenetic location:: 16p13.3
Genomic location:: Chr16: 5080120 - 5201585 (on Assembly GRCh37)
Preferred name:: GRCh37/hg19 16p13.3(chr16:5080120-5201585)x1
HGVS:: NC_000016.9:g.(?_5080120)_(5201585_?)del
This HGVS expression did not pass validation

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
SCV001166309	Quest Diagnostics Nichols Institute San Juan Capistrano	no assertion criteria provided	Uncertain significance (Jul 25, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001166309

Quest Diagnostics Nichols Institute San Juan Capistrano

no assertion criteria provided

Uncertain significance
(Jul 25, 2018)

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, SCV001166309.1

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

Last Updated: Apr 23, 2022

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