NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) AND Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1999
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:: RCV000006211.5

Allele description [Variation Report for NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)]

NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)

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.1259G>A (p.Arg420Gln)

HGVS:

NC_000002.12:g.108896995C>T
NG_008257.1:g.97378G>A
NM_022336.4:c.1259G>AMANE SELECT
NP_071731.1:p.Arg420Gln
NC_000002.11:g.109513451C>T
NM_022336.3:c.1259G>A
Q9UNE0:p.Arg420Gln

Protein change:

R420Q; ARG420GLN

Links:

UniProtKB: Q9UNE0#VAR_013450; OMIM: 604095.0006; dbSNP: rs121908453

NCBI 1000 Genomes Browser:

rs121908453

Molecular consequence:

NM_022336.4:c.1259G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Identifiers:: MedGen: C3551587

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026393	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1999)	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

SCV000026393

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1999)

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

Citations

PubMed

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J.

Nat Genet. 1999 Aug;22(4):366-9.

PubMed [citation]

PMID:: 10431241

Details of each submission

From OMIM, SCV000026393.4

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

Description

In all affected members of a family with autosomal dominant hypohidrotic ectodermal dysplasia (ECTD10A; 129490), Monreal et al. (1999) identified a G-to-A transition at nucleotide 1259 in exon 12 of the EDAR gene that resulted in an arg-to-gln substitution at codon 420 (R420Q).

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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