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NM_004273.5(CHST3):c.570C>T (p.Asp190=) AND Spondyloepiphyseal dysplasia congenita

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:
RCV000307475.5

Allele description [Variation Report for NM_004273.5(CHST3):c.570C>T (p.Asp190=)]

NM_004273.5(CHST3):c.570C>T (p.Asp190=)

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.570C>T (p.Asp190=)
HGVS:
  • NC_000010.11:g.72007601C>T
  • NG_012635.1:g.48240C>T
  • NM_004273.5:c.570C>TMANE SELECT
  • NP_004264.2:p.Asp190=
  • NC_000010.10:g.73767359C>T
  • NM_004273.4:c.570C>T
Links:
dbSNP: rs367857089
NCBI 1000 Genomes Browser:
rs367857089
Molecular consequence:
  • NM_004273.5:c.570C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Spondyloepiphyseal dysplasia congenita (SEDC)
Synonyms:
SED congenita; Spondyloepiphyseal dysplasia, congenital type
Identifiers:
MONDO: MONDO:0008471; MedGen: C2745959; Orphanet: 94068; OMIM: 183900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000364305Illumina 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, SCV000364305.2

#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: Sep 29, 2024