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46;XY;t(16;20)(q23.1;p11.22)

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:: VCV000267924.1
Variation ID:: 267924
Description:: translocation

46;XY;t(16;20)(q23.1;p11.22)

Allele ID: 263300
Variant type: Translocation
Variant length: -
Cytogenetic location: 16q23.1; 20p11.22
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
Abnormal circulating serine family amino acid concentration Abnormal emotion Asthma Bronchiolitis Delayed fine motor development Delayed speech and language development Downturned corners of mouth Eczema Encopresis Enuresis Frontal bossing Hyperhydroxyprolinemia Hypertelorism Hypertriglyceridemia Hypertyrosinemia Increased blood urea nitrogen Microdontia Monocytopenia Neutropenia Recurrent otitis media Sleep abnormality Somatic sensory dysfunction Tall stature Thin upper lip vermilion Triangular face	Uncertain significance	1	criteria provided, single submitter	Aug 20, 2016	RCV000258734.1

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	- Triangular face - Frontal bossing - Hypertelorism - Downturned corners of mouth - Thin upper lip vermilion - Microdontia - Tall stature - Delayed speech and language development - Delayed fine motor development - Somatic sensory dysfunction - Sleep abnormality - Abnormal emotion - Bronchiolitis - Asthma - Recurrent otitis media - Eczema - Encopresis - Enuresis - Neutropenia - Monocytopenia - Increased blood urea nitrogen - Hypertriglyceridemia - Hyperhydroxyprolinemia - Abnormal circulating serine family amino acid concentration - Hypertyrosinemia Affected status: yes Allele origin: unknown	Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital Accession: SCV000320872.1 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 Nov 11, 2023