chr2:218890289:T>A Detail (hg38) (WNT10A)

Information

Genome

Assembly Position
hg19 chr2:219,755,011-219,755,011 View the variant detail on this assembly version.
hg38 chr2:218,890,289-218,890,289

HGVS

Type Transcript Protein
RefSeq NM_025216.2:c.682T>A NP_079492.2:p.Phe228Ile
Ensemble ENST00000258411.8:c.682T>A ENST00000258411.8:p.Phe228Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606268 OMIM
HGNC 13829 HGNC
Ensembl ENSG00000135925 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv314905416 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-04-12 criteria provided, conflicting interpretations Odonto-onycho-dermal dysplasia germline unknown Detail
Pathogenic 2023-04-01 criteria provided, multiple submitters, no conflicts not provided germline paternal unknown Detail
Pathogenic Likely pathogenic 2022-06-13 criteria provided, multiple submitters, no conflicts Tooth agenesis, selective, 4 germline maternal Detail
Pathogenic low penetrance 2024-01-31 criteria provided, single submitter Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia germline Detail
Pathogenic low penetrance 2024-01-31 criteria provided, single submitter Tooth agenesis, selective, 4,Odonto-onycho-dermal dysplasia germline Detail
Pathogenic 2020-10-14 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-09-12 criteria provided, multiple submitters, no conflicts hypohidrotic ectodermal dysplasia germline unknown Detail
Pathogenic 2014-09-15 no assertion criteria provided germline Detail
Pathogenic 2023-03-22 criteria provided, single submitter Tooth agenesis, selective, 4,SchC6pf-Schulz-Passarge syndrome,Odonto-onycho-dermal dysplasia inherited paternal unknown Detail
Pathogenic 2023-03-22 criteria provided, single submitter Tooth agenesis, selective, 4,SchC6pf-Schulz-Passarge syndrome,Odonto-onycho-dermal dysplasia inherited paternal unknown Detail
Pathogenic 2023-03-22 criteria provided, single submitter Tooth agenesis, selective, 4,SchC6pf-Schulz-Passarge syndrome,Odonto-onycho-dermal dysplasia inherited paternal unknown Detail
Pathogenic 2023-07-01 criteria provided, single submitter ectodermal dysplasia germline Detail
Pathogenic 2021-08-27 criteria provided, single submitter SchC6pf-Schulz-Passarge syndrome,Tooth agenesis, selective, 4 germline Detail
Pathogenic 2021-08-27 criteria provided, single submitter SchC6pf-Schulz-Passarge syndrome,Tooth agenesis, selective, 4 germline Detail
Pathogenic 2017-01-17 criteria provided, single submitter germline Detail
Pathogenic 2024-01-11 criteria provided, single submitter WNT10A-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Odontoonychodermal dysplasia NA CLINVAR Detail
0.240 TOOTH AGENESIS, SELECTIVE, 4 (disorder) NA CLINVAR Detail
0.360 Odontoonychodermal dysplasia In this study, we show that (1) WNT10A mutations cause not only OODD but also ot... UNIPROT 19559398 Detail
0.240 TOOTH AGENESIS, SELECTIVE, 4 (disorder) WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasi... UNIPROT 19559398 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Odonto-onycho-dermal dysplasia ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND not provided ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Tooth agenesis, selective, 4 ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Inborn genetic diseases ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Hypohidrotic ectodermal dysplasia ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Tooth agenesis ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Ectodermal dysplasia ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND Oligodontia ClinVar Detail
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) AND WNT10A-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
In this study, we show that (1) WNT10A mutations cause not only OODD but also other forms of ectoder... DisGeNET Detail
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased m... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121908120 dbSNP
Genome
hg38
Position
chr2:218,890,289-218,890,289
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8362
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
117764
Allele Counts in All Race (ExAC)
1499
Heterozygous Counts in All Race (ExAC)
1471
Homozygous Counts in All Race (ExAC)
14
Allele Frequency in All Race (ExAC)
0.012728847525559594
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