NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) AND WNT10A-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 22, 2024
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:: RCV004530357.2

Allele description [Variation Report for NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)]

NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)

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.208C>T (p.Arg70Trp)

HGVS:

NC_000002.12:g.218882255C>T
NG_012179.1:g.6723C>T
NM_025216.3:c.208C>TMANE SELECT
NP_079492.2:p.Arg70Trp
NC_000002.11:g.219746977C>T
NM_025216.2:c.208C>T

Protein change:

R70W

Links:

dbSNP: rs146460077

NCBI 1000 Genomes Browser:

rs146460077

Molecular consequence:

NM_025216.3:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: WNT10A-related disorder
Synonyms:: WNT10A-Related Disorders; WNT10A-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004752975	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Jan 22, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004752975

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Jan 22, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004752975.2

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

Description

The WNT10A c.208C>T variant is predicted to result in the amino acid substitution p.Arg70Trp. This variant has been reported in the heterozygous state in two brothers with missing permanent teeth, and one of the two brothers has more severe phenotype also carried a truncating variant in the EDARADD gene (Arte et al. 2013. PubMed ID: 23991204). This variant is documented in 0.59% of alleles in individuals of South Asian descent in gnomAD. This variant could be benign. At this time, the clinical significance of this variant is uncertain due to insufficient functional and genetic evidence.

#	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: Nov 3, 2024

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