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GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1

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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:
Aug 19, 2013
Accession:
VCV000144147.1
Variation ID:
144147
Description:
686.1kb copy number loss
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GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1

Allele ID
153898
Variant type
copy number loss
Variant length
686,094 bp
Cytogenetic location
22q11.21
Genomic location
22: 20400132-21086225 (GRCh38) GRCh38 UCSC
22: 20754422-21440514 (GRCh37) GRCh37 UCSC
22: 19084422-19770514 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.9:g.(?_19084422)_(19770514_?)del
NC_000022.11:g.(?_20400132)_(21086225_?)del
NC_000022.10:g.(?_20754422)_(21440514_?)del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv3396318
dbVar: nssv575749
dbVar: nssv706350
dbVar: nsv491620
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 Aug 19, 2013 RCV000133629.5

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
CRKL Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7 395
AIFM3 - - GRCh38
GRCh37
- 387
KLHL22 - - GRCh38
GRCh37
- 356
LINC01637 - - - GRCh38 - 173
LOC110121413 - - - GRCh38 - 158
LOC112694767 - - - GRCh38 - 172
LRRC74B - - - GRCh38 2 169
LZTR1 - - GRCh38
GRCh37
484 869
MED15 - - GRCh38
GRCh37
5 363
MIR649 - - - GRCh38 - 168

There are 9 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
(Aug 19, 2013)
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: SCV000172982.5
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
(Aug 05, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: maternal
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000172983.4
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 Aug 20, 2020