NM_004273.5(CHST3):c.857T>C (p.Leu286Pro) AND Spondyloepiphyseal dysplasia with congenital joint dislocations

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 2008
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV000006419.3

Allele description [Variation Report for NM_004273.5(CHST3):c.857T>C (p.Leu286Pro)]

NM_004273.5(CHST3):c.857T>C (p.Leu286Pro)

Gene:

CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_004273.5(CHST3):c.857T>C (p.Leu286Pro)

HGVS:

NC_000010.11:g.72007888T>C
NG_012635.1:g.48527T>C
NM_004273.5:c.857T>CMANE SELECT
NP_004264.2:p.Leu286Pro
NC_000010.10:g.73767646T>C

Protein change:

L286P; LEU286PRO

Links:

OMIM: 603799.0007; dbSNP: rs121908620

NCBI 1000 Genomes Browser:

rs121908620

Molecular consequence:

NM_004273.5:c.857T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)
Synonyms:: Kozlowski Celermajer Tink syndrome; Humero-spinal dysostosis with congenital heart disease
Identifiers:: MONDO: MONDO:0007738; MedGen: C1837657; Orphanet: 263463; OMIM: 143095

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026602	OMIM	no assertion criteria provided	Pathogenic (Sep 15, 2008)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026602

OMIM

no assertion criteria provided

Pathogenic
(Sep 15, 2008)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype.

van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP.

Am J Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482.

PubMed [citation]

PMID:: 18698629

Details of each submission

From OMIM, SCV000026602.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 Turkish sibs with spondyloepiphyseal dysplasia and congenital joint dislocations (SEDCJD; 143095), born of second-cousin parents, van Roij et al. (2008) identified homozygosity for an 857T-C transition in the CHST3 gene, predicted to result in a leu286-to-pro (L286P) substitution at a highly conserved residue adjacent to the binding site for PAPS. Functional studies in patient fibroblasts showed dramatically reduced C6ST1 activity compared to wildtype.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

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