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NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Nov 30, 2019
Accession:
VCV000982057.2
Variation ID:
982057
Description:
single nucleotide variant
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NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)

Allele ID
970196
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.12
Genomic location
1: 21839005 (GRCh38) GRCh38 UCSC
1: 22165498 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.22165498C>T
NC_000001.11:g.21839005C>T
NG_016740.1:g.103253G>A
... more HGVS
Protein change
G3324R, G3325R
Other names
-
Canonical SPDI
NC_000001.11:21839004:C:T
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
Likely pathogenic 1 criteria provided, single submitter - RCV001261556.1
Likely pathogenic 1 criteria provided, single submitter Nov 30, 2019 RCV001597262.1
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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
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: SCV001438820.1
Submitted: (May 26, 2020)
Evidence details
Likely pathogenic
(Nov 30, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV001832461.1
Submitted: (Sep 01, 2021)
Comment:
Patient analyzed with Skeletal Dysplasias Core Panel
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 Sep 10, 2021