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GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3 (Most recent: Sep 26, 2017)
Last evaluated:
Sep 16, 2011
Accession:
VCV000032689.1
Variation ID:
32689
Description:
1.1Mb copy number loss
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GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1

Allele ID
41354
Variant type
copy number loss
Variant length
1,108,003 bp
Cytogenetic location
22q11.21-11.22
Genomic location
22: 21454661-22562663 (GRCh38) GRCh38 UCSC
22: 21808950-22905068 (GRCh37) GRCh37 UCSC
22: 20138950-21235068 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.9:g.(?_20138950)_(21235068_?)del
NC_000022.11:g.(?_21454661)_(22562663_?)del
NC_000022.10:g.(?_21808950)_(22905068_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv582259
dbVar: nssv582352
dbVar: nssv584526
dbVar: nsv531772
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 no assertion criteria provided Sep 16, 2011 RCV000053082.10

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
CCDC116 - - - GRCh38
GRCh37
8 106
IGL - - - GRCh38 - 77
IGLV1-36 - - - GRCh38 - 36
IGLV1-40 - - - GRCh38 - 36
IGLV1-44 - - - GRCh38 - 36
IGLV1-47 - - - GRCh38 - 36
IGLV1-50 - - - GRCh38 - 36
IGLV1-51 - - - GRCh38 - 36
IGLV10-54 - - - GRCh38 - 39
IGLV11-55 - - - GRCh38 - 44

There are 32 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 16, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: de novo
ISCA site 2
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000196341.2
Submitted: (Jun 21, 2014)
Comment:
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 20, 2010)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 8
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000196342.2
Submitted: (Jun 21, 2014)
Comment:
Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Jan 05, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: de novo
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175664.4
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 Nov 26, 2020