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NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs) AND Schwartz-Jampel syndrome type 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003234961.1

Allele description [Variation Report for NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)]

NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)

Genes:
HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_005529.7(HSPG2):c.13163_13164del (p.Pro4388fs)
HGVS:
  • NC_000001.11:g.21823330_21823331del
  • NG_016740.1:g.118929_118930del
  • NM_001013693.3:c.*1115_*1116delMANE SELECT
  • NM_001291860.2:c.13166_13167del
  • NM_005529.7:c.13163_13164delMANE SELECT
  • NP_001278789.1:p.Pro4389fs
  • NP_005520.4:p.Pro4388fs
  • NC_000001.10:g.22149823_22149824del
  • NM_005529.5:c.13161_13162del
Protein change:
P4388fs
Molecular consequence:
  • NM_001013693.3:c.*1115_*1116del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001291860.2:c.13166_13167del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_005529.7:c.13163_13164del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Schwartz-Jampel syndrome type 1
Synonyms:
MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES; SCHWARTZ-JAMPEL-ABERFELD SYNDROME; SJA SYNDROME; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100435; MedGen: C4551479; OMIM: 255800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003934901Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jun 15, 2023)
germlineresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Asian Indiangermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences, SCV003934901.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Asian Indiannot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024