chr2:218890256:G>A Detail (hg38) (WNT10A)

Information

Genome

Assembly Position
hg19 chr2:219,754,978-219,754,978 View the variant detail on this assembly version.
hg38 chr2:218,890,256-218,890,256

HGVS

Type Transcript Protein
RefSeq NM_025216.2:c.649G>A NP_079492.2:p.Asp217Asn
Ensemble ENST00000258411.8:c.649G>A ENST00000258411.8:p.Asp217Asn
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 tgv248452176 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-28 criteria provided, single submitter Tooth agenesis, selective, 4 germline Detail
Uncertain significance no assertion criteria provided not provided not provided unknown Detail
Likely benign 2017-04-28 criteria provided, single submitter SchC6pf-Schulz-Passarge syndrome germline Detail
Likely benign 2017-04-28 criteria provided, single submitter Odonto-onycho-dermal dysplasia germline Detail
Uncertain significance 2022-05-04 criteria provided, single submitter not specified germline Detail
Uncertain significance 2022-09-29 criteria provided, single submitter Odonto-onycho-dermal dysplasia,Tooth agenesis, selective, 4 germline Detail
Uncertain significance 2022-09-29 criteria provided, single submitter Odonto-onycho-dermal dysplasia,Tooth agenesis, selective, 4 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 TOOTH AGENESIS, SELECTIVE, 4 (disorder) NA CLINVAR Detail
0.240 TOOTH AGENESIS, SELECTIVE, 4 (disorder) WNT10A and isolated hypodontia. UNIPROT 21484994 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND Tooth agenesis, selective, 4 ClinVar Detail
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND not provided ClinVar Detail
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND SchC6pf-Schulz-Passarge syndrome ClinVar Detail
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND Odonto-onycho-dermal dysplasia ClinVar Detail
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND not specified ClinVar Detail
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND multiple conditions ClinVar Detail
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
WNT10A and isolated hypodontia. 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
rs146902156 dbSNP
Genome
hg38
Position
chr2:218,890,256-218,890,256
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Allele Frequency (ExAC)
0.0
East Asian Chromosome Counts (ExAC)
8440
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
Chromosome Counts in All Race (ExAC)
118302
Allele Counts in All Race (ExAC)
61
Heterozygous Counts in All Race (ExAC)
61
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
5.156294906256868E-4
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