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NM_004273.5(CHST3):c.*3245G>A AND Spondyloepiphyseal dysplasia with congenital joint dislocations

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000377835.5

Allele description [Variation Report for NM_004273.5(CHST3):c.*3245G>A]

NM_004273.5(CHST3):c.*3245G>A

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.*3245G>A
HGVS:
  • NC_000010.11:g.72011716G>A
  • NG_012635.1:g.52355G>A
  • NM_004273.5:c.*3245G>AMANE SELECT
  • NC_000010.10:g.73771474G>A
  • NM_004273.4:c.*3245G>A
Links:
dbSNP: rs545967470
NCBI 1000 Genomes Browser:
rs545967470
Molecular consequence:
  • NM_004273.5:c.*3245G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000364647Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000364647.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023