NM_001399.4(EDA):c.895G>A (p.Gly299Ser) AND Hypohidrotic X-linked ectodermal dysplasia

replaced

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 26, 2011
Review status:: 1 star out of maximum of 4 stars
classified by 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:: RCV000150602.1

Allele description

NM_001399.4(EDA):c.895G>A (p.Gly299Ser)

Gene:

EDA:ectodysplasin A [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.4(EDA):c.895G>A (p.Gly299Ser)

HGVS:

NC_000023.11:g.70033499G>A
NG_009809.1:g.422439G>A
NM_001399.4:c.895G>A
NP_001390.1:p.Gly299Ser
NC_000023.10:g.69253349G>A
c.895G>A

Protein change:

G299S

Links:

dbSNP: rs397516679

NCBI 1000 Genomes Browser:

rs397516679

Molecular consequence:

NM_001399.4:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hypohidrotic X-linked ectodermal dysplasia (XHED)
Synonyms:: Ectodermal Dysplasia 1, Anhidrotic; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; CST SYNDROME; See all synonyms [MedGen]
Identifiers:: MedGen: C0162359; Orphanet: 181; Orphanet: 238468; OMIM: 305100
Age of onset:: Neonatal/infancy

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000197891	Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	classified by single submitter	Likely pathogenic (Jul 26, 2011)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9736768, 9683615, 14656435

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000197891

Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

classified by single submitter

Likely pathogenic
(Jul 26, 2011)

germline

clinical testing

PubMed (3)
[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	2	2	not provided	not provided	not provided	clinical testing

Citations

PubMed

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.

Bayés M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J.

Hum Mol Genet. 1998 Oct;7(11):1661-9.

PubMed [citation]

PMID:: 9736768

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

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000197891.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (3)

Description

The Gly299Ser variant in EDA has been reported in 3 individuals with X-linked hypohidrotic ectodermal dysplasia and was absent in 135 control chromosomes (Bayes 1998, Monreal 1998). In addition, based on the crystal structure this variant is predicted to affect the overall structure of EDA (Hymowitz 2003). Furthermore, this residue is conserved across species and computational analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Gly299Ser variant may impact the protein. In summary, this variant is likely to be 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		2	not provided	2	not provided

Last Updated: Jan 30, 2015

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