NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) AND Hypohidrotic Ectodermal Dysplasia, Dominant

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000382959.5

Allele description [Variation Report for NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)]

NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)

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.1109T>C (p.Val370Ala)

HGVS:

NC_000002.12:g.108897145A>G
NG_008257.1:g.97228T>C
NM_022336.4:c.1109T>CMANE SELECT
NP_071731.1:p.Val370Ala
NC_000002.11:g.109513601A>G
NM_022336.3:c.1109T>C
Q9UNE0:p.Val370Ala

Protein change:

V370A; VAL370ALA

Links:

UniProtKB: Q9UNE0#VAR_020011; OMIM: 604095.0011; dbSNP: rs3827760

NCBI 1000 Genomes Browser:

rs3827760

Molecular consequence:

NM_022336.4:c.1109T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypohidrotic Ectodermal Dysplasia, Dominant
Identifiers:: MedGen: CN239335

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000415843	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000415843

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

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

ICSL_Variant_Classification_20161018.pdf

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

A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness.

Fujimoto A, Kimura R, Ohashi J, Omi K, Yuliwulandari R, Batubara L, Mustofa MS, Samakkarn U, Settheetham-Ishida W, Ishida T, Morishita Y, Furusawa T, Nakazawa M, Ohtsuka R, Tokunaga K.

Hum Mol Genet. 2008 Mar 15;17(6):835-43. Epub 2007 Dec 8.

PubMed [citation]

PMID:: 18065779

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000415843.2

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

#	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: Sep 29, 2024

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