ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3
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 21p11.2-q22.3(chr21:7749532-46671060)x3
Variation ID: 149418 Accession: VCV000149418.2
- Type and length
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copy number gain, 38,853,903 bp
- Location
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Cytogenetic: 21p11.2-q22.3 21: 7749532-46671060 (GRCh38) [ NCBI UCSC ] 21: 15451032-48090972 (GRCh37) [ NCBI UCSC ] 21: 14372903-46915400 (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 Jul 6, 2016 Jul 6, 2016 Feb 13, 2013 - HGVS
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Nucleotide Protein Molecular
consequenceNC_000021.9:g.(?_7749532)_(46671060_?)dup NC_000021.8:g.(?_15451032)_(48090972_?)dup NC_000021.7:g.(?_14372903)_(46915400_?)dup - Protein change
- 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
- dbVar: nssv14082007
- dbVar: nssv1415146
- dbVar: nssv1415147
- dbVar: nssv1415441
- dbVar: nssv1415477
- dbVar: nssv1495053
- dbVar: nssv1495054
- dbVar: nssv1495056
- dbVar: nssv1495057
- dbVar: nssv1495058
- dbVar: nssv1495063
- dbVar: nssv1495065
- dbVar: nssv1495066
- dbVar: nssv1495067
- dbVar: nssv1601993
- dbVar: nssv1602206
- dbVar: nssv1602465
- dbVar: nssv1603189
- dbVar: nssv1603418
- dbVar: nssv1604002
- dbVar: nssv1604381
- dbVar: nssv1604899
- dbVar: nssv1608110
- dbVar: nssv1608195
- dbVar: nssv1608838
- dbVar: nssv1608918
- dbVar: nssv1610188
- dbVar: nssv1610225
- dbVar: nssv1610227
- dbVar: nssv1610403
- dbVar: nssv3396614
- dbVar: nsv915673
- VarSome
Genes
There are 1151 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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Pathogenic (1) |
no assertion criteria provided
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Feb 13, 2013 | RCV000138436.6 |
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 13, 2013)
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no assertion criteria provided
Method: clinical testing
|
See cases
Affected status: yes
Allele origin:
not provided
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ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000178755.5
First in ClinVar: Sep 01, 2014 Last updated: Jul 06, 2016 |
Observation 1:
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 2:
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 3:
Number of individuals with the variant: 1
Clinical Features:
Delayed speech and language development (present) , Delayed gross motor development (present)
Method: Microarray
Result:
Pass
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Atrial septal defect (present) , Duodenal stenosis (present)
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
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)
Method: Microarray
Result:
Pass
Observation 7:
Number of individuals with the variant: 1
Clinical Features:
Generalized hypotonia (present) , Failure to thrive (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:
Severe intrauterine growth retardation (present)
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 10:
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 11:
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 12:
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 13:
Number of individuals with the variant: 1
Clinical Features:
Heart murmur (present)
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 14:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Generalized hypotonia (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:
Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Apraxia (present)
Method: Microarray
Result:
Pass
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Hypospadias (present) , Muscular hypotonia (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)
Method: Microarray
Result:
Pass
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 21:
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 22:
Number of individuals with the variant: 1
Clinical Features:
Abnormal facial shape (present)
Method: Microarray
Result:
Pass
Observation 23:
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 24:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the nasal bridge (present) , Muscular hypotonia (present) , Redundant neck skin (present)
Method: Microarray
Result:
Pass
Observation 25:
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 26:
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 27:
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 28:
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 29:
Number of individuals with the variant: 1
Clinical Features:
Muscular hypotonia (present) , Premature birth (present) , Atrial septal defect (present)
Sex: female
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 30:
Number of individuals with the variant: 1
Clinical Features:
Macroglossia (present) , Single transverse palmar crease (present) , Muscular hypotonia (present) , Global developmental delay (present) , Anemia (present)
Age: 0-9 years
Sex: male
Ethnicity/Population group: human
Method: Microarray
Result:
Pass
Observation 31:
Number of individuals with the variant: 1
Clinical Features:
Atrial septal defect (present)
Sex: female
Ethnicity/Population group: human
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
HelpThere 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 Oct 15, 2023
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.