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NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV001824872.2

Allele description [Variation Report for NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)]

NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)

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.11863G>T (p.Val3955Leu)
HGVS:
  • NC_000001.11:g.21829512C>A
  • NG_016740.1:g.112746G>T
  • NM_001291860.2:c.11866G>T
  • NM_005529.7:c.11863G>TMANE SELECT
  • NP_001278789.1:p.Val3956Leu
  • NP_005520.4:p.Val3955Leu
  • NC_000001.10:g.22156005C>A
  • NM_005529.5:c.11863G>T
  • NM_005529.6:c.11863G>T
Protein change:
V3955L
Links:
dbSNP: rs145155624
NCBI 1000 Genomes Browser:
rs145155624
Molecular consequence:
  • NM_001291860.2:c.11866G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005529.7:c.11863G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lethal Kniest-like syndrome (DDSH)
Synonyms:
Dyssegmental dwarfism Silverman-Handmaker type; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type; Dyssegmental Dysplasia
Identifiers:
MONDO: MONDO:0009140; MedGen: C1857100; Orphanet: 1865; OMIM: 224410
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002075209GenomeConnect, ClinGen
no classification provided
not providedpaternalphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV002075209.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpreted as Uncertain significance and reported on 07-21-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024