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NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Oct 10, 2018)
Last evaluated:
May 21, 2017
Accession:
VCV000235713.1
Variation ID:
235713
Description:
single nucleotide variant
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NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)

Allele ID
237393
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.12
Genomic location
1: 21876363 (GRCh38) GRCh38 UCSC
1: 22202856 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.22202856T>G
NC_000001.11:g.21876363T>G
NM_005529.7:c.2869A>C NP_005520.4:p.Asn957His
NG_016740.1:g.65895A>C
Protein change
N957H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01498 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01425
Trans-Omics for Precision Medicine (TOPMed) 0.01753
1000 Genomes Project 0.01498
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02007
The Genome Aggregation Database (gnomAD), exomes 0.00410
Exome Aggregation Consortium (ExAC) 0.00577
Links
dbSNP: rs62618730
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts May 21, 2017 RCV000224961.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000283378.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000324468.1
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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
455 506

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 28, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000281501.1
Submitted: (May 19, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Schwartz-Jampel Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000354974.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dyssegmental Dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000354973.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(May 21, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000604004.2
Submitted: (Oct 10, 2018)
Evidence details

Citations for this variant

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 Jun 17, 2019