NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) AND Non-syndromic oligodontia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 27, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001261884.1

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:: Non-syndromic oligodontia
Identifiers:: MedGen: CN233186

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001365407	Department of Prosthodontics, Peking University School and Hospital of Stomatology	no assertion criteria provided	Pathogenic (Apr 27, 2020)	inherited	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001365407

Department of Prosthodontics, Peking University School and Hospital of Stomatology

no assertion criteria provided

Pathogenic
(Apr 27, 2020)

inherited

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Prosthodontics, Peking University School and Hospital of Stomatology, SCV001365407.1

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

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

Last Updated: Sep 29, 2024

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