NC_000023.11:g.70027892_70027919del AND Hypohidrotic X-linked ectodermal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 22, 2012
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:: RCV000037177.5

Allele description [Variation Report for NC_000023.11:g.70027892_70027919del]

NC_000023.11:g.70027892_70027919del

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NC_000023.11:g.70027892_70027919del

HGVS:

NC_000023.11:g.70027892_70027919del
NG_009809.2:g.416826_416853del
NM_001005609.2:c.562_589del
NM_001005612.3:c.562_589del
NM_001399.5:c.562_589delMANE SELECT
NP_001005609.1:p.Pro188fs
NP_001005612.2:p.Pro188fs
NP_001390.1:p.Pro188fs
NC_000023.10:g.69247742_69247769del
NM_001399.4:c.562_589del
c.562_589del
p.Pro188ArgfsX83

Protein change:

P188fs

Links:

dbSNP: rs397516667

NCBI 1000 Genomes Browser:

rs397516667

Observations:

Condition(s)

Name:: Hypohidrotic X-linked ectodermal dysplasia (XHED)
Synonyms:: ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; Anhidrotic ectodermal dysplasia X-linked; Christ Siemens Touraine syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010585; MedGen: C0162359; Orphanet: 181; Orphanet: 238468; OMIM: 305100

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NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, ...
NOD-derived CD11c +ve dendritic cells cDNA, RIKEN full-length enriched library, clone:F630013B20 product:colony stimulating factor 1 (macrophage), full insert sequence
gi|123787555|sp|Q3U4F9|Q3U4F9_MOUSE

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060834	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Feb 22, 2012)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 9683615, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060834

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Feb 22, 2012)

germline

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
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

Monreal AW, Zonana J, Ferguson B.

Am J Hum Genet. 1998 Aug;63(2):380-9. Erratum in: Am J Hum Genet 1998 Oct;63(4):1253-5.

PubMed [citation]

PMID:: 9683615
PMCID:: PMC1377324

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000060834.5

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

Description

The Pro188fs variant (EDA) has been reported as a de novo variant in one individ ual with X-linked hypohidrotic ectodermal dysplasia (Monreal 1998). This framesh ift variant is predicted to alter the protein?s amino acid sequence beginning at position 188 and lead to a premature termination codon 83 amino acids downstrea m. This alteration is then predicted to lead to a truncated or absent protein. L oss of function of the EDA gene is an established disease mechanism in X-linked hypohidrotic ectodermal dysplasia. In summary, this variant meets our criteria t o be classified as pathogenic.

#	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		1	not provided	1	not provided

Last Updated: Oct 8, 2024

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