NM_022336.4(EDAR):c.803+1G>A AND Ectodermal dysplasia

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001729338.2

Allele description [Variation Report for NM_022336.4(EDAR):c.803+1G>A]

NM_022336.4(EDAR):c.803+1G>A

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.803+1G>A

HGVS:

NC_000002.12:g.108910459C>T
NG_008257.1:g.83914G>A
NG_012210.2:g.195979C>T
NM_022336.4:c.803+1G>AMANE SELECT
NC_000002.11:g.109526915C>T
NM_022336.3:c.803+1G>A

Note:

NCBI staff reviewed the sequence information reported in PubMed 18816645 Fig. 2 to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS9, G-A, +1

Links:

OMIM: 604095.0013; dbSNP: rs797044437

NCBI 1000 Genomes Browser:

rs797044437

Molecular consequence:

NM_022336.4:c.803+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Ectodermal dysplasia
Synonyms:: Ectodermal dysplasia syndrome
Identifiers:: MONDO: MONDO:0019287; MedGen: C0013575; OMIM: PS305100; Human Phenotype Ontology: HP:0000968

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001977600	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001977600

GeneReviews

no classification provided

not provided

germline

literature only

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	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.

Mégarbané H, Cluzeau C, Bodemer C, Fraïtag S, Chababi-Atallah M, Mégarbané A, Smahi A.

Am J Med Genet A. 2008 Oct 15;146A(20):2657-62. doi: 10.1002/ajmg.a.32509.

PubMed [citation]

PMID:: 18816645

Details of each submission

From GeneReviews, SCV001977600.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Dec 24, 2023

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