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NM_001399.5(EDA):c.132_135dup (p.Phe46fs) AND Hypohidrotic X-linked ectodermal dysplasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 8, 2014
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:
RCV000156531.4

Allele description [Variation Report for NM_001399.5(EDA):c.132_135dup (p.Phe46fs)]

NM_001399.5(EDA):c.132_135dup (p.Phe46fs)

Gene:
EDA:ectodysplasin A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_001399.5(EDA):c.132_135dup (p.Phe46fs)
HGVS:
  • NC_000023.11:g.69616440_69616443dup
  • NG_009809.2:g.5374_5377dup
  • NM_001005609.2:c.132_135dup
  • NM_001005610.4:c.132_135dup
  • NM_001005612.3:c.132_135dup
  • NM_001005613.4:c.132_135dup
  • NM_001399.5:c.132_135dupMANE SELECT
  • NP_001005609.1:p.Phe46fs
  • NP_001005610.2:p.Phe46fs
  • NP_001005612.2:p.Phe46fs
  • NP_001005613.1:p.Phe46fs
  • NP_001390.1:p.Phe46fs
  • NC_000023.10:g.68836284_68836287dup
  • NM_001399.4:c.135_136insGGGT
  • p.Phe46GlyfsX55
Protein change:
F46fs
Links:
dbSNP: rs727505089
NCBI 1000 Genomes Browser:
rs727505089
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206250Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Apr 8, 2014) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided21not providednot providednot providedclinical 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, SCV000206250.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

The Phe46fs variant in EDA has not been previously reported in individuals with hypohidrotic ectodermal dysplasia and was absent from large population studies. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 46 and lead to a premature termination codon 55 amino aci ds downstream. This alteration is then predicted to lead to a truncated or absen t protein. Loss of function of function of the EDA gene is an established diseas e mechanism in XLHED. In summary, this variant meets our criteria to be classifi ed as pathogenic (http://pcpgm.partners.org/LMM).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided1not provided

Last Updated: Dec 24, 2022