Single allele AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 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:: RCV000677110.1

Allele description [Variation Report for Single allele]

Genes:

AMBRA1:autophagy and beclin 1 regulator 1 [Gene - OMIM - HGNC]
CREB3L1:cAMP responsive element binding protein 3 like 1 [Gene - OMIM - HGNC]
CHRM4:cholinergic receptor muscarinic 4 [Gene - OMIM - HGNC]
DGKZ:diacylglycerol kinase zeta [Gene - OMIM - HGNC]
HARBI1:harbinger transposase derived 1 [Gene - OMIM - HGNC]
MDK:midkine [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

11p11.2

Genomic location:

Chr11: 46315434 - 46629277 (on Assembly GRCh37)

HGVS:

NC_000011.9:g.46315434_46629277dup

Condition(s)

Name:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Name:: Hypotelorism
Identifiers:: MedGen: C0424711; Human Phenotype Ontology: HP:0000601

Name:: Short philtrum
Identifiers:: MedGen: C1861324; Human Phenotype Ontology: HP:0000322

Name:: Infantile muscular hypotonia
Identifiers:: MedGen: C1860834; Human Phenotype Ontology: HP:0008947

Recent activity

Clear Turn Off Turn On

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
SCV000803181	Medical Genetics Lab, Policlinico S. Orsola.Malpighi	no assertion criteria provided	Uncertain significance (May 1, 2018)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000803181

Medical Genetics Lab, Policlinico S. Orsola.Malpighi

no assertion criteria provided

Uncertain significance
(May 1, 2018)

de novo

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Medical Genetics Lab, Policlinico S. Orsola.Malpighi, SCV000803181.1

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

Description

This is a small, rare, de novo duplication. ClinVar reports one similar overlapping duplication, defined as of uncertain significance.

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine