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: 155158 Accession: VCV000155158.2
- 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: 18916842-21465662 (GRCh37) [ NCBI UCSC ] 22: 17296842-19795662 (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 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNC_000022.11:g.(?_18339130)_(21111373_?)del NC_000022.10:g.(?_18916842)_(21465662_?)del NC_000022.9:g.(?_17296842)_(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: nssv13638883 dbVar: nssv13639933 dbVar: nssv13640905 dbVar: nssv13644009 dbVar: nssv13644062 dbVar: nssv13644437 dbVar: nssv13646745 dbVar: nssv13647137 dbVar: nssv13650561 dbVar: nssv13651139 dbVar: nssv13651639 dbVar: nssv13651666 dbVar: nssv13652053 dbVar: nssv13653330 dbVar: nssv14081957 dbVar: nssv14082414 dbVar: nssv14082439 dbVar: nssv1610271 dbVar: nssv3395106 dbVar: nssv3395108 dbVar: nssv3395291 dbVar: nssv3395421 dbVar: nssv3395442 dbVar: nssv3396870 dbVar: nssv3396940 dbVar: nssv3397087 dbVar: nssv3397223 dbVar: nssv3397352 dbVar: nsv932076 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 |
968 | 1360 | |
| CRKL | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
27 | 430 | |
| HIRA | No evidence available | No evidence available |
GRCh38 GRCh37 |
108 | 492 | |
| AIFM3 | - | - |
GRCh38 GRCh37 |
42 | 446 | |
| ARVCF | - | - |
GRCh38 GRCh37 |
176 | 653 | |
| C22orf39 | - | - | - |
GRCh38 GRCh37 |
- | 383 |
| CCDC188 | - | - | - | GRCh38 | - | 172 |
| CDC45 | - | - |
GRCh38 GRCh37 |
287 | 672 | |
| CLDN5 | - | - |
GRCh38 GRCh37 |
20 | 403 | |
| CLTCL1 | - | - |
GRCh38 GRCh37 |
173 | 572 | |
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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Aug 10, 2015 | RCV000143225.6 |
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
(Aug 10, 2015)
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no assertion criteria provided
Method: clinical testing
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See cases
Affected status: yes
Allele origin:
unknown
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ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000181561.4
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:
Specific learning disability (present) , Obstructive sleep apnea (present)
Method: Microarray
Result:
Pass
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Microcephaly (present) , Abnormality of the ear (present) , Delayed speech and language development (present) , Intellectual disability (present) , Intrauterine growth retardation (present) , … (more)
Microcephaly (present) , Abnormality of the ear (present) , Delayed speech and language development (present) , Intellectual disability (present) , Intrauterine growth retardation (present) , Ventricular septal defect (present) , Short stature (present) (less)
Method: Microarray
Result:
Pass
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present) , Intellectual disability (present) , Obesity (present)
Method: Microarray
Result:
Pass
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Coloboma (present)
Method: Microarray
Result:
Pass
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
Unilateral renal agenesis (present) , Global developmental delay (present)
Method: Microarray
Result:
Pass
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Dandy-Walker malformation (present) , obsolete Malformation of the heart and great vessels (present)
Method: Microarray
Result:
Pass
Observation 7:
Number of individuals with the variant: 1
Clinical Features:
Flexion contracture (present) , Polyhydramnios (present) , Premature birth (present) , Ventricular septal defect (present) , Talipes equinovarus (present) , Rigidity (present) , Abnormality of … (more)
Flexion contracture (present) , Polyhydramnios (present) , Premature birth (present) , Ventricular septal defect (present) , Talipes equinovarus (present) , Rigidity (present) , Abnormality of limb bone morphology (present) (less)
Method: Microarray
Result:
Pass
Observation 8:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 9:
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability (present)
Method: Microarray
Result:
Pass
Observation 10:
Number of individuals with the variant: 1
Clinical Features:
Truncus arteriosus (present)
Method: Microarray
Result:
Pass
Observation 11:
Number of individuals with the variant: 1
Clinical Features:
Failure to thrive (present)
Method: Microarray
Result:
Pass
Observation 12:
Number of individuals with the variant: 1
Clinical Features:
Encephalopathy (present)
Method: Microarray
Result:
Pass
Observation 13:
Number of individuals with the variant: 1
Clinical Features:
Tetralogy of Fallot (present) , Pulmonic stenosis (present) , Abnormality of digit (present)
Method: Microarray
Result:
Pass
Observation 14:
Number of individuals with the variant: 1
Clinical Features:
Congenital diaphragmatic hernia (present) , Hypertonia (present) , Failure to thrive (present) , Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 15:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 16:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present) , Ventricular septal defect (present)
Method: Microarray
Result:
Pass
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability, mild (present) , Thrombocytopenia (present) , Decreased antibody level in blood (present)
Method: Microarray
Result:
Pass
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Seizures (present)
Method: Microarray
Result:
Pass
Observation 19:
Number of individuals with the variant: 1
Clinical Features:
Submucous cleft hard palate (present)
Method: Microarray
Result:
Pass
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present) , Abnormality of the philtrum (present) , Hearing impairment (present) , Wide nasal bridge (present) , Dental crowding (present) , Obsessive-compulsive behavior … (more)
Cleft palate (present) , Abnormality of the philtrum (present) , Hearing impairment (present) , Wide nasal bridge (present) , Dental crowding (present) , Obsessive-compulsive behavior (present) , Anxiety (present) , Delayed speech and language development (present) , Pectus excavatum (present) , Global developmental delay (present) , Constipation (present) , Abnormal facial shape (present) , Abnormality of dental morphology (present) , Attention deficit hyperactivity disorder (present) , Microtia (present) (less)
Method: Microarray
Result:
Pass
Observation 21:
Number of individuals with the variant: 1
Clinical Features:
Delayed gross motor development (present)
Method: Microarray
Result:
Pass
Observation 22:
Number of individuals with the variant: 1
Clinical Features:
Ventricular septal defect (present) , Hypoplastic left heart (present) , Hypoxemia (present)
Method: Microarray
Result:
Pass
Observation 23:
Number of individuals with the variant: 1
Clinical Features:
Muscular hypotonia (present) , Global developmental delay (present) , Joint laxity (present)
Method: Microarray
Result:
Pass
Observation 24:
Number of individuals with the variant: 1
Clinical Features:
Micrognathia (present)
Method: Microarray
Result:
Pass
Observation 25:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present) , Specific learning disability (present) , Premature birth (present) , Delayed gross motor development (present) , Delayed fine motor … (more)
Delayed speech and language development (present) , Specific learning disability (present) , Premature birth (present) , Delayed gross motor development (present) , Delayed fine motor development (present) (less)
Method: Microarray
Result:
Pass
Observation 26:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the immune system (present) , Hypocalcemia (present) , Aplasia of the thymus (present) , Stridor (present)
Age: 0-9 years
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 27:
Number of individuals with the variant: 1
Clinical Features:
Abnormal heart morphology (present)
Method: Microarray
Result:
Pass
Observation 28:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (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.