NM_022336.4(EDAR):c.1089del (p.Tyr364fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 23, 2018
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:: RCV002233144.14

Allele description [Variation Report for NM_022336.4(EDAR):c.1089del (p.Tyr364fs)]

NM_022336.4(EDAR):c.1089del (p.Tyr364fs)

Genes:

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

Variant type:

Deletion

Cytogenetic location:

2q13

Genomic location:

Preferred name:

NM_022336.4(EDAR):c.1089del (p.Tyr364fs)

HGVS:

NC_000002.12:g.108897165del
NG_008257.1:g.97208del
NM_022336.4:c.1089delMANE SELECT
NP_071731.1:p.Tyr364fs
NC_000002.11:g.109513621del
NM_022336.3:c.1089delG

Protein change:

Y364fs

Links:

dbSNP: rs1558793736

NCBI 1000 Genomes Browser:

rs1558793736

Molecular consequence:

NM_022336.4:c.1089del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Name:: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Synonyms:: Autosomal recessive hypohidrotic ectodermal dysplasia
Identifiers:: MONDO: MONDO:0016619; MedGen: C0406702

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000814464	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 23, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23401279, 24641098, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000814464

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 23, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D, Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B, Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, Jonveaux P, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N.

Am J Med Genet A. 2013 Apr;161A(4):671-8. doi: 10.1002/ajmg.a.35747. Epub 2013 Feb 7.

PubMed [citation]

PMID:: 23401279

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

Callea M, Willoughby CE, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, Sani I, Vinciguerra A, Maglione M, Tadini G, Clarich G.

J Eur Acad Dermatol Venereol. 2015 May;29(5):1032-4. doi: 10.1111/jdv.12457. Epub 2014 Mar 18. No abstract available.

PubMed [citation]

PMID:: 24641098

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000814464.4

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

Description

This sequence change results in a premature translational stop signal in the EDAR gene (p.Tyr364Thrfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 85 amino acids of the EDAR protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EDAR-related disease. A different truncation (p.Phe398*) that lies downstream of this variant has been reported in families with ectodermal dysplasia and determined to be pathogenic (PMID: 23401279, 24641098). This suggests that deletion of this region of the EDAR protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine