GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1 AND Autistic disorder of childhood onset

Clinical significance:Uncertain significance (Last evaluated: Aug 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000993708.2

Allele description [Variation Report for GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1]

GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1

Genes:
DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21
Genomic location:
Chr22: 20027779 - 20070503 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1
HGVS:
NC_000022.10:g.(20027779_20030799)_(20068380_20070503)del
Observations:
1

Condition(s)

Name:
Autistic disorder of childhood onset (AUTS)
Identifiers:
MONDO: MONDO:0005260; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000999014Molecular Pathology Laboratory,Cleveland Cliniccriteria provided, single submitter
Uncertain significance
(Aug 1, 2018)
maternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknown31not provided7yesclinical testing

Citations

PubMed

Deletion Extents Are Not the Cause of Clinical Variability in 22q11.2 Deletion Syndrome: Does the Interaction between DGCR8 and miRNA-CNVs Play a Major Role?

Bertini V, AzzarĂ  A, Legitimo A, Milone R, Battini R, Consolini R, Valetto A.

Front Genet. 2017;8:47. doi: 10.3389/fgene.2017.00047.

PubMed [citation]
PMID:
28507561
PMCID:
PMC5410573

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Molecular Pathology Laboratory,Cleveland Clinic, SCV000999014.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providedyesclinical testing PubMed (2)

Description

One child with autism; variant inherited from normal mother and mat grandfather

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknown7Peripheral bloodnot provided3not provided1not provided

Last Updated: Sep 29, 2021

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