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NM_022336.4(EDAR):c.931G>T (p.Glu311Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 21, 2019
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:
RCV000689707.8

Allele description [Variation Report for NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)]

NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)

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.931G>T (p.Glu311Ter)
HGVS:
  • NC_000002.12:g.108907892C>A
  • NG_008257.1:g.86481G>T
  • NM_022336.4:c.931G>TMANE SELECT
  • NP_071731.1:p.Glu311Ter
  • NC_000002.11:g.109524348C>A
  • NM_022336.3:c.931G>T
Protein change:
E311*
Links:
dbSNP: rs1432041144
NCBI 1000 Genomes Browser:
rs1432041144
Molecular consequence:
  • NM_022336.4:c.931G>T - 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
Name:
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Synonyms:
Autosomal recessive hypohidrotic ectodermal dysplasia
Identifiers:
MONDO: MONDO:0016619; MedGen: C0406702

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000817371Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 21, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, Bonnefont JP, Bodemer C, et al.

Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.

PubMed [citation]
PMID:
20979233
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000817371.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EDAR are known to be pathogenic (PMID: 10431241, 20979233). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EDAR-related disease. ClinVar contains an entry for this variant (Variation ID: 569147). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu311*) in the EDAR gene. It is expected to result in an absent or disrupted protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024