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NM_005529.7(HSPG2):c.11208-7G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: May 26, 2020)
Last evaluated:
Feb 9, 2017
Accession:
VCV000499769.2
Variation ID:
499769
Description:
single nucleotide variant
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NM_005529.7(HSPG2):c.11208-7G>A

Allele ID
491193
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.12
Genomic location
1: 21831803 (GRCh38) GRCh38 UCSC
1: 22158296 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.21831803C>T
NC_000001.10:g.22158296C>T
NM_005529.7:c.11208-7G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:21831802:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA521587734
dbSNP: rs1336552092
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 9, 2017 RCV000593717.1
Likely pathogenic 1 criteria provided, single submitter - RCV001261555.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HSPG2 - - GRCh38
GRCh37
1182 1291

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 09, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705433.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Schwartz-Jampel syndrome
Allele origin: germline
Pathology and Clinical Laboratory Medicine,King Fahad Medical City
Accession: SCV001438819.1
Submitted: (May 26, 2020)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HSPG2 - - - -

Text-mined citations for rs1336552092...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021