ClinVar Genomic variation as it relates to human health
GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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GRCh38/hg38 22q11.21(chr22:18339130-21111373)x1
Variation ID: 155059 Accession: VCV000155059.2
- Type and length
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copy number loss, 2,772,244 bp
- Location
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Cytogenetic: 22q11.21 22: 18339130-21111373 (GRCh38) [ NCBI UCSC ] 22: 18916828-21465662 (GRCh37) [ NCBI UCSC ] 22: 17296828-19795662 (NCBI36) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 26, 2017 Oct 26, 2017 Feb 11, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNC_000022.11:g.(?_18339130)_(21111373_?)del NC_000022.10:g.(?_18916828)_(21465662_?)del NC_000022.9:g.(?_17296828)_(19795662_?)del - Protein change
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- Other names
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- Canonical SPDI
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- Links
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dbVar: nssv13638544 dbVar: nssv13639280 dbVar: nssv13639842 dbVar: nssv13643491 dbVar: nssv13644378 dbVar: nssv13646576 dbVar: nssv13646764 dbVar: nssv13646864 dbVar: nssv13646956 dbVar: nssv13648248 dbVar: nssv13650086 dbVar: nssv13650678 dbVar: nssv13652042 dbVar: nssv13654340 dbVar: nssv14082211 dbVar: nssv14082356 dbVar: nssv14082404 dbVar: nssv1608289 dbVar: nssv3395061 dbVar: nssv3395289 dbVar: nssv3396759 dbVar: nssv3397018 dbVar: nssv3397020 dbVar: nssv3397082 dbVar: nssv3397229 dbVar: nssv3397302 dbVar: nsv931114 VarSome
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| TBX1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
981 | 1373 | |
| CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
29 | 436 | |
| HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
121 | 505 | |
| AIFM3 | - | - |
GRCh38 GRCh37 |
50 | 457 | |
| ARVCF | - | - |
GRCh38 GRCh37 |
191 | 670 | |
| C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
| CCDC188 | - | - | - | GRCh38 | - | 172 |
| CDC45 | - | - |
GRCh38 GRCh37 |
297 | 682 | |
| CLDN5 | - | - |
GRCh38 GRCh37 |
22 | 405 | |
| CLTCL1 | - | - |
GRCh38 GRCh37 |
199 | 601 | |
There are 177 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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See cases
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Pathogenic (1) |
no assertion criteria provided
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Feb 11, 2016 | RCV000143126.6 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Feb 11, 2016)
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no assertion criteria provided
Method: clinical testing
|
See cases
Affected status: yes
Allele origin:
unknown,
de novo
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ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000180614.4
First in ClinVar: Sep 01, 2014 Last updated: Oct 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)
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 data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/]. (less)
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Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Cryptorchidism (present) , Microcephaly (present) , Blepharophimosis (present) , Intrauterine growth retardation (present) , Abnormal facial shape (present) , Asymmetric crying face (present)
Method: Microarray
Result:
Pass
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present)
Age: 0-9 years
Sex: female
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Micrognathia (present) , Abnormality of the ear (present) , Muscular hypotonia (present) , Failure to thrive (present) , Downturned corners of mouth (present)
Method: Microarray
Result:
Pass
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Depression (present) , Intellectual disability (present)
Method: Microarray
Result:
Pass
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
Hypospadias (present) , Hydronephrosis (present) , Behavioral abnormality (present) , Intellectual disability (present) , Tetralogy of Fallot (present)
Method: Microarray
Result:
Pass
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Sex: female
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 7:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Result:
Pass
Observation 8:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Result:
Pass
Observation 9:
Number of individuals with the variant: 1
Clinical Features:
High palate (present) , Long face (present) , Delayed speech and language development (present) , Specific learning disability (present) , Laryngomalacia (present) , Tetralogy of … (more)
High palate (present) , Long face (present) , Delayed speech and language development (present) , Specific learning disability (present) , Laryngomalacia (present) , Tetralogy of Fallot (present) , Kyphosis (present) (less)
Method: Microarray
Result:
Pass
Observation 10:
Number of individuals with the variant: 1
Clinical Features:
Microcephaly (present) , Autism (present)
Method: Microarray
Result:
Pass
Observation 11:
Number of individuals with the variant: 1
Clinical Features:
Truncus arteriosus (present) , Respiratory distress (present)
Method: Microarray
Result:
Pass
Observation 12:
Number of individuals with the variant: 1
Clinical Features:
Cleft upper lip (present) , obsolete Malformation of the heart and great vessels (present) , Lobar holoprosencephaly (present)
Method: Microarray
Result:
Pass
Observation 13:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present)
Age: 0-9 years
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 14:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present) , Ventricular septal defect (present) , Atrial septal defect (present)
Method: Microarray
Result:
Pass
Observation 15:
Number of individuals with the variant: 1
Clinical Features:
Tetany (present) , Hypocalcemia (present)
Method: Microarray
Result:
Pass
Observation 16:
Number of individuals with the variant: 1
Clinical Features:
Failure to thrive (present) , Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Tetralogy of Fallot (present)
Method: Microarray
Result:
Pass
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Hypertelorism (present) , Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 19:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Sex: female
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Expressive language delay (present)
Method: Microarray
Result:
Pass
Observation 21:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present) , Seizures (present)
Age: 0-9 years
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 22:
Number of individuals with the variant: 1
Clinical Features:
Tetralogy of Fallot (present)
Method: Microarray
Result:
Pass
Observation 23:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the ear (present) , Single transverse palmar crease (present) , Hirsutism (present) , Premature birth (present) , Ventricular septal defect (present) , Tetralogy … (more)
Abnormality of the ear (present) , Single transverse palmar crease (present) , Hirsutism (present) , Premature birth (present) , Ventricular septal defect (present) , Tetralogy of Fallot (present) , Abnormal nipple morphology (present) , Pulmonary artery aneurysm (present) (less)
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 24:
Number of individuals with the variant: 1
Clinical Features:
obsolete Malformation of the heart and great vessels (present)
Method: Microarray
Result:
Pass
Observation 25:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present) , Premature birth (present) , Truncus arteriosus (present)
Method: Microarray
Result:
Pass
Observation 26:
Number of individuals with the variant: 1
Clinical Features:
Narrow mouth (present) , Epicanthus (present) , Micrognathia (present) , Premature birth (present) , Ventricular septal defect (present)
Method: Microarray
Result:
Pass
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Germline 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 germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated May 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.