NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala) AND Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 3, 2022
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:: RCV001807985.1

Allele description [Variation Report for NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)]

NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala)

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.359A>C (p.Asp120Ala)

HGVS:

NC_000001.11:g.236482360A>C
NG_011566.1:g.92981A>C
NM_001422628.1:c.293A>C
NM_080738.5:c.329A>C
NM_145861.4:c.359A>CMANE SELECT
NP_001409557.1:p.Asp98Ala
NP_542776.1:p.Asp110Ala
NP_542776.1:p.Asp110Ala
NP_665860.2:p.Asp120Ala
NC_000001.10:g.236645660A>C
NM_080738.4:c.329A>C

Protein change:

D110A

Links:

dbSNP: rs2103042605

NCBI 1000 Genomes Browser:

rs2103042605

Molecular consequence:

NM_001422628.1:c.293A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080738.5:c.329A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145861.4:c.359A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
Identifiers:: MONDO: MONDO:0013982; MedGen: C3541517; Orphanet: 1810; Orphanet: 238468; OMIM: 614940

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002058318	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] PMID:20979233

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002058318

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 3, 2022)

germline

clinical testing

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

PMID:20979233

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

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 3billion, SCV002058318.1

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

Description

A different missense change at the same codon (p.Asp120Tyr) has been reported to be associated with EDARADD related disorder (PMID:20979233, PM5). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.9, PP3_P). A missense variant is a common mechanism associated with Ectodermal dysplasia 11A (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Patient's phenotype is considred compatible with Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant. Therefore, this variant is classified as likley pathogenic according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Dec 24, 2023

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