NM_004273.5(CHST3):c.904G>C (p.Asp302His) AND Spondyloepiphyseal dysplasia with congenital joint dislocations

Germline classification:: Pathogenic (1 submission)
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:: RCV000550153.1

Allele description [Variation Report for NM_004273.5(CHST3):c.904G>C (p.Asp302His)]

NM_004273.5(CHST3):c.904G>C (p.Asp302His)

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.904G>C (p.Asp302His)

Other names:

CHST3

HGVS:

NC_000010.11:g.72007935G>C
NG_012635.1:g.48574G>C
NM_004273.5:c.904G>CMANE SELECT
NP_004264.2:p.Asp302His
NC_000010.10:g.73767693G>C
NM_004273.4:c.904G>C

Protein change:

D302H

Links:

dbSNP: rs1316347883

NCBI 1000 Genomes Browser:

rs1316347883

Molecular consequence:

NM_004273.5:c.904G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000622096	Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 27753269

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000622096

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Indian	inherited	yes	1	not provided	not provided	not provided	not provided	clinical testing

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

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Srivastava P, Pandey H, Agarwal D, Mandal K, Phadke SR.

Am J Med Genet A. 2017 Jan;173(1):163-168. doi: 10.1002/ajmg.a.37996. Epub 2016 Oct 18.

PubMed [citation]

PMID:: 27753269

Details of each submission

From Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, SCV000622096.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Indian	1	not provided	not provided	clinical testing	PubMed (2)

Description

Variant was found to be pathogenic by MutationTaster, SIFT and PolyPhen. Parents were found to be carriers.

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

Last Updated: Dec 11, 2022

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