NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg) AND Schwartz-Jampel syndrome

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001261556.1

Allele description [Variation Report for NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)]

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

Gene:
HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)
HGVS:
  • NC_000001.11:g.21839005C>T
  • NG_016740.1:g.103253G>A
  • NM_001291860.2:c.9973G>A
  • NM_005529.7:c.9970G>AMANE SELECT
  • NP_001278789.1:p.Gly3325Arg
  • NP_005520.4:p.Gly3324Arg
  • NC_000001.10:g.22165498C>T
  • NM_005529.6:c.9970G>A
Protein change:
G3324R
Molecular consequence:
  • NM_001291860.2:c.9973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005529.7:c.9970G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Schwartz-Jampel syndrome
Synonyms:
Schwartz Jampel syndrome type 1; Schwartz Jampel Aberfeld syndrome; Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009717; MedGen: C4551479; Orphanet: 800; OMIM: 255800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001438820Pathology and Clinical Laboratory Medicine,King Fahad Medical Citycriteria provided, single submitter
Likely pathogenicgermlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Arabgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pathology and Clinical Laboratory Medicine,King Fahad Medical City, SCV001438820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Arab1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 10, 2021

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