NM_001399.5(EDA):c.434_438del (p.Pro145fs) AND Hypohidrotic X-linked ectodermal dysplasia

Germline classification:: Likely pathogenic (1 submission)
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:: RCV003337894.3

Allele description [Variation Report for NM_001399.5(EDA):c.434_438del (p.Pro145fs)]

NM_001399.5(EDA):c.434_438del (p.Pro145fs)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.5(EDA):c.434_438del (p.Pro145fs)

HGVS:

NC_000023.11:g.69957064_69957068del
NG_009809.2:g.345998_346002del
NM_001005609.2:c.434_438del
NM_001005610.1:c.434_438delCATAC
NM_001005612.3:c.434_438del
NM_001399.5:c.434_438delMANE SELECT
NP_001005609.1:p.Pro145fs
NP_001005610.1:p.Pro145Leufs
NP_001005612.2:p.Pro145fs
NP_001390.1:p.Pro145fs
NC_000023.10:g.69176914_69176918del

Protein change:

P145fs

Molecular consequence:

NM_001005609.2:c.434_438del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005610.1:c.434_438delCATAC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005612.3:c.434_438del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001399.5:c.434_438del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Homologene neighbors for GEO Profiles (Select 66727813) (0)
GEO Profiles
Profile neighbors for GEO Profiles (Select 66722818) (200)
GEO Profiles
puf5 pumilio family RNA-binding protein Puf5 [Schizosaccharomyces pombe]
puf5 pumilio family RNA-binding protein Puf5 [Schizosaccharomyces pombe]
Gene ID:2543684

Gene
Gene Links for GEO Profiles (Select 66722717) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004048306	Neuberg Centre For Genomic Medicine, NCGM	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	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

SCV004048306

Neuberg Centre For Genomic Medicine, NCGM

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004048306.1

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

Description

The frameshift variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

#	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: Oct 20, 2024

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