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GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3

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Interpretation:
Conflicting interpretations of pathogenicity​

Uncertain significance(1);conflicting data from submitters(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 26, 2017)
Last evaluated:
Oct 10, 2011
Accession:
VCV000032442.1
Variation ID:
32442
Description:
1.6Mb copy number gain
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GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3

Allele ID
41107
Variant type
copy number gain
Variant length
1,607,083 bp
Cytogenetic location
7q21.13
Genomic location
7: 88563550-90170632 (GRCh38) GRCh38 UCSC
7: 88192865-89799946 (GRCh37) GRCh37 UCSC
7: 88030801-89637882 (NCBI36) NCBI36 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.(?_88192865)_(89799946_?)dup
NC_000007.12:g.(?_88030801)_(89637882_?)dup
NC_000007.14:g.(?_88563550)_(90170632_?)dup
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbVar: nssv3396449
dbVar: nssv576620
dbVar: nssv582619
dbVar: nssv584364
dbVar: nsv529331
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 Oct 10, 2011 RCV000050715.10

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
STEAP1 - - GRCh38
GRCh37
- 42
STEAP2-AS1 - - - GRCh38 1 25
TEX47 - - - GRCh38
GRCh37
- 44
ZNF804B - - - GRCh38
GRCh37
23 69

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 28, 2010)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: not provided
ISCA site 4
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175286.3
Submitted: (Jun 21, 2014)
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.
Evidence details
Publications
PubMed (1)
conflicting data from submitters
(Oct 10, 2011)
no assertion criteria provided
Method: clinical testing
See cases
Allele origin: paternal, maternal
ISCA site 1
Additional submitter:
International Standards For Cytogenomic Arrays Consortium (ISCA)
Accession: SCV000175285.5
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)
Comment:
Uncertain significance(2), Likely benign (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