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GRCh37/hg19 5q14.1(chr5:78280531-78280745)x4

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 11, 2018)
Last evaluated:
Nov 9, 2010
Accession:
VCV000608243.1
Variation ID:
608243
Description:
copy number gain
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GRCh37/hg19 5q14.1(chr5:78280531-78280745)x4

Allele ID
599579
Variant type
copy number gain
Variant length
-
Cytogenetic location
5q14.1
Genomic location
5: 78280531-78280745 (GRCh37) GRCh37 UCSC
HGVS
-
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided Nov 9, 2010 RCV000744879.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSB - - GRCh38
GRCh37
563 576

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 09, 2010)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory,Cincinnati Children's Hospital Medical Center
Accession: SCV000873215.1
Submitted: (Apr 11, 2018)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jul 07, 2021