NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs) AND Chondrodysplasia punctata 2 X-linked dominant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 8, 2013
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:: RCV000193635.6

Allele description [Variation Report for NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)]

NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)

Gene:

EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

Xp11.23

Genomic location:

Preferred name:

NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)

HGVS:

NC_000023.11:g.48527239_48527243delinsT
NG_007452.1:g.10464_10468delinsT
NM_006579.3:c.423_427delinsTMANE SELECT
NP_006570.1:p.Arg142fs
NC_000023.10:g.48385627_48385631delinsT

Protein change:

R142fs

Links:

dbSNP: rs797045546

NCBI 1000 Genomes Browser:

rs797045546

Molecular consequence:

NM_006579.3:c.423_427delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Chondrodysplasia punctata 2 X-linked dominant (CDPX2)
Synonyms:: CONRADI-HUNERMANN-HAPPLE SYNDROME; Happle syndrome; Conrad Hunermann Happle syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0020603; MedGen: C0282102; Orphanet: 35173; OMIM: 302960

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000247250	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (Feb 8, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000247250

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(Feb 8, 2013)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000247250.1

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

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

Last Updated: Feb 14, 2024

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