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46;XY;t(18;20)(q21.1;p11.23)dn

Interpretation:: Uncertain significance
Review status:: criteria provided, single submitter
Submissions:: 1
First in ClinVar:: Nov 13, 2016
Most recent Submission:: Nov 13, 2016
Last evaluated:: Aug 20, 2016
Accession:: VCV000268042.1
Variation ID:: 268042
Description:: translocation

46;XY;t(18;20)(q21.1;p11.23)dn

Allele ID: 263418
Variant type: Translocation
Variant length: -
Cytogenetic location: 18q21.1; 20p11.23
Genomic location: -
HGVS: -
Protein change: -
Other names: -
Canonical SPDI: -
Functional consequence: -
Global minor allele frequency (GMAF): -
Allele frequency: -
Links: -

Aggregate interpretations per condition

Interpreted condition	Interpretation	Number of submissions	Review status	Last evaluated	Variation/condition record
Anterior synechiae of the anterior chamber Atrial septal defect Atrial septal defect, ostium secundum type Broad forehead Chin with horizontal crease Congenital ectopic pupil Corneal opacity Cyanosis Ebstein anomaly Epicanthal fold Generalized opacification of the cornea Long palpebral fissure Long philtrum Mandibular prognathia Mild global developmental delay Motor delay Premature birth Prominent forehead Pulmonary artery stenosis Respiratory failure requiring assisted ventilation Sclerocornea Shawl scrotum Short neck Short nose Square face Visual impairment Wide nasal base	Uncertain significance	1	criteria provided, single submitter	Aug 20, 2016	RCV000258511.1

No affected genes found.

Submitted interpretations and evidence

Interpretation (Last evaluated)	Review status (Assertion criteria)	Condition (Inheritance)	Submitter	More information
Uncertain significance (Aug 20, 2016)	criteria provided, single submitter (Talkowski Lab Assertion Criteria for BCA 2016) Method: research	Short nose Premature birth Atrial septal defect, ostium secundum type Chin with horizontal crease Cyanosis Epicanthal fold Long palpebral fissure Sclerocornea Mandibular prognathia Respiratory failure requiring assisted ventilation Corneal opacity Broad forehead Prominent forehead Generalized opacification of the cornea Congenital ectopic pupil Anterior synechiae of the anterior chamber Ebstein anomaly Motor delay Shawl scrotum Short neck Long philtrum Atrial septal defect Mild global developmental delay Visual impairment Wide nasal base Pulmonary artery stenosis Square face Affected status: yes Allele origin: de novo	Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital Accession: SCV000320989.1 First in ClinVar: Nov 13, 2016 Last updated: Nov 13, 2016	Publications: PubMed (1) PubMed: 27841880 Sex: male

Functional evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Title	Author	Journal	Year	Link
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.	Redin C	Nature genetics	2017	PMID: 27841880

Record last updated Feb 13, 2023