ClinVar Genomic variation as it relates to human health
GRCh38/hg38 10q26.3(chr10:133440535-133564028)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
-
GRCh38/hg38 10q26.3(chr10:133440535-133564028)x3
Variation ID: 32088 Accession: VCV000032088.2
- Type and length
-
copy number gain, 123,494 bp
- Location
-
Cytogenetic: 10q26.3 10: 133440535-133564028 (GRCh38) [ NCBI UCSC ] 10: 135254039-135377532 (GRCh37) [ NCBI UCSC ] 10: 135104029-135227522 (NCBI36) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 10, 2015 Jul 10, 2015 Aug 26, 2013 - HGVS
-
Nucleotide Protein Molecular
consequenceNC_000010.11:g.(?_133440535)_(133564028_?)dup NC_000010.10:g.(?_135254039)_(135377532_?)dup NC_000010.9:g.(?_135104029)_(135227522_?)dup - Protein change
- -
- Other names
- -
- Canonical SPDI
- -
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
-
dbVar: nssv3395159 dbVar: nssv3395687 dbVar: nssv3395840 dbVar: nssv3395845 dbVar: nssv3395855 dbVar: nssv3395858 dbVar: nssv3395878 dbVar: nssv3395893 dbVar: nssv3395988 dbVar: nssv3396027 dbVar: nssv3396035 dbVar: nssv3396136 dbVar: nssv3396225 dbVar: nssv3396238 dbVar: nssv3396264 dbVar: nssv3396272 dbVar: nssv3396296 dbVar: nssv3396315 dbVar: nssv3396329 dbVar: nssv3396344 dbVar: nssv3396425 dbVar: nssv3396433 dbVar: nssv3396648 dbVar: nssv3396716 dbVar: nssv575306 dbVar: nssv575333 dbVar: nssv575352 dbVar: nssv575406 dbVar: nssv575425 dbVar: nssv575454 dbVar: nssv575468 dbVar: nssv575487 dbVar: nssv575503 dbVar: nssv575559 dbVar: nssv575564 dbVar: nssv575575 dbVar: nssv575577 dbVar: nssv575598 dbVar: nssv575606 dbVar: nssv575612 dbVar: nssv575683 dbVar: nssv575727 dbVar: nssv575746 dbVar: nssv575760 dbVar: nssv575782 dbVar: nssv576436 dbVar: nssv576455 dbVar: nssv576463 dbVar: nssv576481 dbVar: nssv576826 dbVar: nssv576841 dbVar: nssv581857 dbVar: nsv529218 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 | ||
|---|---|---|---|---|---|---|
| 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. |
|||
| CYP2E1 | - | - |
GRCh38 GRCh37 |
29 | 215 | |
| LOC110599585 | - | - | - | GRCh38 | - | 100 |
| LOC126861107 | - | - | - | GRCh38 | - | 104 |
| LOC129390242 | - | - | - | GRCh38 | - | 73 |
| LOC130005033 | - | - | - | GRCh38 | - | 73 |
| LOC130005034 | - | - | - | GRCh38 | - | 92 |
| LOC130005035 | - | - | - | GRCh38 | - | 92 |
| LOC130005036 | - | - | - | GRCh38 | - | 95 |
| SCART1 | - | - | - | GRCh38 | - | 89 |
| SYCE1 | - | - |
GRCh38 GRCh37 |
44 | 212 | |
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. |
|---|---|---|---|---|
|
See cases
|
Benign (2) |
no assertion criteria provided
|
Aug 26, 2013 | RCV000050541.9 |
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. |
|
|---|---|---|---|---|---|
|
Benign
(Aug 26, 2013)
|
no assertion criteria provided
Method: clinical testing
|
See cases
Affected status: yes
Allele origin:
unknown
|
ISCA site 4
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000196266.2
First in ClinVar: Jan 02, 2015 Last updated: Jul 10, 2015
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.
|
Observation 1:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 2:
Number of individuals with the variant: 1
Clinical Features:
Cleft palate (present) , Cleft upper lip (present)
Method: Microarray
Observation 3:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 4:
Number of individuals with the variant: 1
Clinical Features:
Spina bifida occulta (present)
Method: Microarray
Observation 5:
Number of individuals with the variant: 1
Clinical Features:
Autism (present)
Method: Microarray
Observation 6:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 7:
Number of individuals with the variant: 1
Clinical Features:
Hearing impairment (present) , Anterior hypopituitarism (present)
Method: Microarray
Observation 8:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the nervous system (present)
Method: Microarray
Observation 9:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 10:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 11:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 12:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 13:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the nervous system (present)
Method: Microarray
Observation 14:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 15:
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the nervous system (present)
Method: Microarray
Observation 16:
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability (present) , Seizure (present) , Autistic behavior (present)
Method: Microarray
Observation 17:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 18:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 19:
Number of individuals with the variant: 1
Clinical Features:
Seizure (present)
Method: Microarray
Observation 20:
Number of individuals with the variant: 1
Clinical Features:
Expressive language delay (present) , Receptive language delay (present) , Absent speech (present)
Method: Microarray
Observation 21:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 22:
Number of individuals with the variant: 1
Clinical Features:
Nonprogressive encephalopathy (present)
Method: Microarray
Observation 23:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 24:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 25:
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present)
Method: Microarray
Observation 26:
Number of individuals with the variant: 1
Clinical Features:
Seizure (present) , Autism (present)
Method: Microarray
Observation 27:
Number of individuals with the variant: 1
Clinical Features:
Macroglossia (present)
Method: Microarray
Observation 28:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 29:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 30:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 31:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 32:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 33:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 34:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 35:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 36:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 37:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 38:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 39:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 40:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 41:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 42:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 43:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 44:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 45:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 46:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 47:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 48:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 49:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 50:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
Observation 51:
Number of individuals with the variant: 1
Clinical Features:
Developmental delay AND/OR other significant developmental or morphological phenotypes (present)
Method: Microarray
|
|
|
Benign
(Oct 19, 2010)
|
no assertion criteria provided
Method: clinical testing
|
See cases
Affected status: yes
Allele origin:
unknown
|
ISCA site 8
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000196267.2
First in ClinVar: Jan 02, 2015 Last updated: Jul 10, 2015
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.
|
Number of individuals with the variant: 1
Clinical Features:
Global developmental delay (present) , Hypertelorism (present)
Method: Microarray
|
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.