NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter) AND Odonto-onycho-dermal dysplasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2009
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:: RCV000004719.2

Allele description [Variation Report for NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)]

NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)

Gene:

WNT10A:Wnt family member 10A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_025216.3(WNT10A):c.1128C>A (p.Cys376Ter)

HGVS:

NC_000002.12:g.218893145C>A
NG_012179.1:g.17613C>A
NM_025216.3:c.1128C>AMANE SELECT
NP_079492.2:p.Cys376Ter
NC_000002.11:g.219757867C>A

Protein change:

C376*; CYS376TER

Links:

OMIM: 606268.0005; dbSNP: rs121908122

NCBI 1000 Genomes Browser:

rs121908122

Molecular consequence:

NM_025216.3:c.1128C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Odonto-onycho-dermal dysplasia
Synonyms:: Odontoonychodermal dysplasia
Identifiers:: MONDO: MONDO:0009773; MedGen: C0796093; Orphanet: 2721; OMIM: 257980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024894	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 2009)	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

SCV000024894

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 2009)

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

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A.

Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.

PubMed [citation]

PMID:: 19559398
PMCID:: PMC2706962

Details of each submission

From OMIM, SCV000024894.1

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

Description

In 2 sisters with odontoonychodermal dysplasia (OODD; 257980), Bohring et al. (2009) identified homozygosity for a 1128C-A transversion in the WNT10A gene, resulting in a cys376-to-ter (C376X) substitution that was not found in 200 control chromosomes. Their unaffected father was a heterozygous carrier; their mother was deceased.

#	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: Mar 5, 2024

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