NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) AND Hypohidrotic X-linked ectodermal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 10, 2015
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:: RCV000222108.4

Allele description [Variation Report for NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)]

NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)

HGVS:

NC_000023.11:g.70035393T>G
NG_009809.2:g.424327T>G
NM_001005609.2:c.954T>G
NM_001005612.3:c.945T>G
NM_001399.5:c.960T>GMANE SELECT
NP_001005609.1:p.Tyr318Ter
NP_001005612.2:p.Tyr315Ter
NP_001390.1:p.Tyr320Ter
NC_000023.10:g.69255243T>G
NM_001399.4:c.960T>G
p.Tyr320X

Protein change:

Y315*

Links:

dbSNP: rs876657687

NCBI 1000 Genomes Browser:

rs876657687

Molecular consequence:

NM_001005609.2:c.954T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001005612.3:c.945T>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001399.5:c.960T>G - nonsense - [Sequence Ontology: SO:0001587]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000271360	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Jun 10, 2015)	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

SCV000271360

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Jun 10, 2015)

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

Citations

PubMed

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, SCV000271360.2

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

Description

The p.Tyr320X variant in EDA has not been previously reported in individuals wit h hypohidrotic ectodermal dysplasia (HED) and was absent from large population s tudies. This nonsense variant leads to a premature termination codon at position 320, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the EDA gene is an established disease mechanism in X-linked HED. In summary, this variant meets our criteria to be classified as pathogeni c for HED in an X-linked manner (http://www.partners.org/personalizedmedicine/LM M) based upon absence from controls and predicted impact to the protein.

#	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: Dec 24, 2022

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