NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) AND Hypohidrotic ectodermal dysplasia

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 2, 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:: RCV001102398.12

Allele description [Variation Report for NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)]

NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)

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.308C>T (p.Ser103Phe)

HGVS:

NC_000001.11:g.236482309C>T
NG_011566.1:g.92930C>T
NM_001422628.1:c.242C>T
NM_080738.5:c.278C>T
NM_145861.4:c.308C>TMANE SELECT
NP_001409557.1:p.Ser81Phe
NP_542776.1:p.Ser93Phe
NP_542776.1:p.Ser93Phe
NP_665860.2:p.Ser103Phe
NC_000001.10:g.236645609C>T
NM_080738.4:c.278C>T
NM_145861.2:c.308C>T
Q8WWZ3:p.Ser103Phe

Protein change:

S103F

Links:

UniProtKB: Q8WWZ3#VAR_054509; dbSNP: rs114632254

NCBI 1000 Genomes Browser:

rs114632254

Molecular consequence:

NM_001422628.1:c.242C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_080738.5:c.278C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_145861.4:c.308C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypohidrotic ectodermal dysplasia (HED)
Identifiers:: MONDO: MONDO:0016535; MedGen: C5848103; Orphanet: 238468; Human Phenotype Ontology: HP:0007607

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uncharacterized protein CLAFUR5_14632 [Fulvia fulva]
uncharacterized protein CLAFUR5_14632 [Fulvia fulva]
gi|2234865541|ref|XP_047769772.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001259068	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Mar 2, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 21626677, 20979233, 20222921 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001259068

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Mar 2, 2018)

germline

clinical testing

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

Citation Link

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

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N.

Am J Med Genet A. 2011 Jul;155A(7):1616-22. doi: 10.1002/ajmg.a.34045. Epub 2011 May 27.

PubMed [citation]

PMID:: 21626677

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 Illumina Laboratory Services, Illumina, SCV001259068.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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: Oct 20, 2024

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