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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 22, 2019)
Last evaluated:
Aug 1, 2018
Accession:
VCV000694455.2
Variation ID:
694455
Description:
copy number loss
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GRCh37/hg19 22q11.21(chr22:20030799-20068380)x1

Allele ID
682394
Variant type
copy number loss
Variant length
-
Cytogenetic location
22q11.21
Genomic location
22: 20027779-20070503 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.(20027779_20030799)_(20068380_20070503)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 1, 2018 RCV000993708.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DGCR8 - - GRCh38
GRCh37
22 399
TANGO2 - - GRCh38
GRCh37
92 471

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
Autistic disorder of childhood onset
Allele origin: maternal
Molecular Pathology Laboratory,Cleveland Clinic
Accession: SCV000999014.1
Submitted: (Jul 22, 2019)
Evidence details
Publications
PubMed (1)
Comment:
One child with autism; variant inherited from normal mother and mat grandfather

Functional evidence

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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

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Title Author Journal Year Link
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 Frontiers in genetics 2017 PMID: 28507561

Record last updated Sep 29, 2021