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NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile) AND Tooth agenesis

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001269383.2

Allele description [Variation Report for NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)]

NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)

Gene:
EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_145861.4(EDARADD):c.413A>T (p.Asn138Ile)
HGVS:
  • NC_000001.11:g.236482414A>T
  • NG_011566.1:g.93035A>T
  • NM_001422628.1:c.347A>T
  • NM_080738.5:c.383A>T
  • NM_145861.4:c.413A>TMANE SELECT
  • NP_001409557.1:p.Asn116Ile
  • NP_542776.1:p.Asn128Ile
  • NP_542776.1:p.Asn128Ile
  • NP_665860.2:p.Asn138Ile
  • NC_000001.10:g.236645714A>T
  • NM_080738.4:c.383A>T
Protein change:
N116I
Links:
dbSNP: rs1030214435
NCBI 1000 Genomes Browser:
rs1030214435
Molecular consequence:
  • NM_001422628.1:c.347A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080738.5:c.383A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145861.4:c.413A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tooth agenesis
Synonyms:
Reduced number of teeth; Decreased number of teeth; Decreased tooth count; See all synonyms [MedGen]
Identifiers:
MedGen: C4024202; Human Phenotype Ontology: HP:0009804

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001335265Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Thaigermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University, SCV001335265.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Thai1not providednot providedresearch PubMed (1)

Description

The missense mutation in EDARADD gene was previously reported in a patient with isolated tooth agenesis (Bergendal 2011, Barbato 2018). The p.Asn138Ile is located in the death domain of EDARADD interacting with EDAR. The variant is classified as likely pathogenic using ACMG guideline with the following evidence; PM1, PM2, PP2 and PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2024