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GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 26, 2017)
Last evaluated:
Feb 18, 2011
Accession:
VCV000033061.1
Variation ID:
33061
Description:
1.9Mb copy number gain
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GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3

Allele ID
41726
Variant type
copy number gain
Variant length
1,894,317 bp
Cytogenetic location
22q11.22-11.23
Genomic location
22: 22669543-24563859 (GRCh38) GRCh38 UCSC
22: 23012013-24959827 (GRCh37) GRCh37 UCSC
22: 21342013-23289827 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.11:g.(?_22669543)_(24563859_?)dup
NC_000022.10:g.(?_23012013)_(24959827_?)dup
NC_000022.9:g.(?_21342013)_(23289827_?)dup
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv3396632
dbVar: nssv575342
dbVar: nssv582968
dbVar: nssv706420
dbVar: nsv529346
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Feb 18, 2011 RCV000050739.9

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMARCB1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh38
GRCh37
501 618
BCR No evidence available No evidence available GRCh38
GRCh37
56 214
ADORA2A - - GRCh38
GRCh37
- 99
ADORA2A-AS1 - - - GRCh38 - 43
C22orf15 - - - GRCh38
GRCh38
GRCh37
- 103
CABIN1 - - GRCh38
GRCh38
GRCh37
38 150
CHCHD10 - - GRCh38
GRCh38
GRCh37
91 196
DDT - - GRCh38
GRCh38
GRCh37
- 105
DDTL - - - GRCh38
GRCh38
GRCh37
- 105
DERL3 - - GRCh38
GRCh38
GRCh37
- 117

There are 68 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 27, 2010)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: maternal
ISCA site 4
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175297.5
Submitted: (Feb 23, 2017)
Comments (2):
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For … (more)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Feb 18, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: maternal, not provided
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175298.4
Submitted: (Sep 26, 2017)
Comments (2):
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For … (more)
Evidence details
Publications
PubMed (1)

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
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT American journal of human genetics 2010 PMID: 20466091

Record last updated Mar 12, 2021