NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter) AND Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 21, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000258329.2

Allele description [Variation Report for NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)]

NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)

Genes:

RANBP2:RAN binding protein 2 [Gene - OMIM - HGNC]
EDAR:ectodysplasin A receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)

HGVS:

NC_000002.12:g.108896970A>T
NG_008257.1:g.97403T>A
NM_022336.4:c.1284T>AMANE SELECT
NP_071731.1:p.Cys428Ter
NC_000002.11:g.109513426A>T
NM_022336.3:c.1284T>A

Protein change:

C428*

Links:

dbSNP: rs886041005

NCBI 1000 Genomes Browser:

rs886041005

Molecular consequence:

NM_022336.4:c.1284T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)
Synonyms:: Ectodermal Dysplasia 3, Anhidrotic
Identifiers:: MONDO: MONDO:0007509; MedGen: C3888065; Orphanet: 1810; Orphanet: 238468; OMIM: 129490

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328440	Hehr Laboratory, Center for Human Genetics Regensburg	no assertion criteria provided	Likely pathogenic (Jul 21, 2016)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328440

Hehr Laboratory, Center for Human Genetics Regensburg

no assertion criteria provided

Likely pathogenic
(Jul 21, 2016)

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Hehr Laboratory, Center for Human Genetics Regensburg, SCV000328440.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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