NM_001399.5(EDA):c.865C>T (p.Arg289Cys) AND Tooth agenesis, selective, X-linked, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 17, 2016
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:: RCV000239506.1

Allele description [Variation Report for NM_001399.5(EDA):c.865C>T (p.Arg289Cys)]

NM_001399.5(EDA):c.865C>T (p.Arg289Cys)

Gene:

EDA:ectodysplasin A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001399.5(EDA):c.865C>T (p.Arg289Cys)

HGVS:

NC_000023.11:g.70033469C>T
NG_009809.2:g.422403C>T
NM_001005609.2:c.865C>T
NM_001005612.3:c.856C>T
NM_001399.5:c.865C>TMANE SELECT
NP_001005609.1:p.Arg289Cys
NP_001005612.2:p.Arg286Cys
NP_001390.1:p.Arg289Cys
NC_000023.10:g.69253319C>T
NM_001399.4:c.865C>T
Q92838:p.Arg289Cys

Protein change:

R286C; ARG289CYS

Links:

UniProtKB: Q92838#VAR_071456; OMIM: 300451.0021; dbSNP: rs879255551

NCBI 1000 Genomes Browser:

rs879255551

Molecular consequence:

NM_001005609.2:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005612.3:c.856C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001399.5:c.865C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Tooth agenesis, selective, X-linked, 1 (STHAGX1)
Synonyms:: HYPODONTIA/OLIGODONTIA, X-LINKED, 1
Identifiers:: MONDO: MONDO:0010741; MedGen: C1970757; Orphanet: 99798; OMIM: 313500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000297843	OMIM	no assertion criteria provided	Pathogenic (Aug 17, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297843

OMIM

no assertion criteria provided

Pathogenic
(Aug 17, 2016)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

EDA gene mutations underlie non-syndromic oligodontia.

Song S, Han D, Qu H, Gong Y, Wu H, Zhang X, Zhong N, Feng H.

J Dent Res. 2009 Feb;88(2):126-31. doi: 10.1177/0022034508328627.

PubMed [citation]

PMID:: 19278982
PMCID:: PMC3317984

Details of each submission

From OMIM, SCV000297843.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Chinese man with selective tooth agenesis (STHAGX1; 313500), Song et al. (2009) identified a c.865C-T transition in exon 7 of the EDA gene, resulting in an arg289-to-cys (R289C) substitution at a residue on the outer surface of the homotrimer. His unaffected mother carried the mutation, which was not found in 60 Chinese female controls.

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

Last Updated: Feb 14, 2024

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