chr11:32435148:C>A Detail (hg38) (WT1, LOC107982234)

Information

Genome

Assembly Position
hg19 chr11:32,456,694-32,456,694 View the variant detail on this assembly version.
hg38 chr11:32,435,148-32,435,148

HGVS

Type Transcript Protein
RefSeq NM_024426.4:c.213G>T NP_077744.3:p.Pro71=
NM_024424.3:c.213G>T NP_077742.2:p.Pro71=
NM_000378.4:c.213G>T NP_000369.3:p.Pro71=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.094
ToMMo:0.093
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.097

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607102 OMIM
HGNC 12796 HGNC
Ensembl ENSG00000184937 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42107285 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-05-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-12-05 criteria provided, multiple submitters, no conflicts Meacham syndrome germline Detail
Benign 2023-07-07 criteria provided, multiple submitters, no conflicts Wilms tumor 1 germline Detail
Benign 2021-12-05 criteria provided, multiple submitters, no conflicts Nephrotic syndrome, type 4 germline Detail
Benign 2016-05-26 criteria provided, single submitter not provided germline Detail
Benign 2024-02-01 criteria provided, single submitter Drash syndrome,11p partial monosomy syndrome,Wilms tumor 1,Frasier syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Drash syndrome,11p partial monosomy syndrome,Wilms tumor 1,Frasier syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Drash syndrome,11p partial monosomy syndrome,Wilms tumor 1,Frasier syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Drash syndrome,11p partial monosomy syndrome,Wilms tumor 1,Frasier syndrome germline Detail
Benign 2021-12-05 criteria provided, single submitter Frasier syndrome germline Detail
Benign 2021-12-05 criteria provided, single submitter Drash syndrome germline Detail
Benign 2019-03-28 criteria provided, single submitter nephroblastoma germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND not specified ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Meacham syndrome ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Wilms tumor 1 ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Nephrotic syndrome, type 4 ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND not provided ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND multiple conditions ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND multiple conditions ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND multiple conditions ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND multiple conditions ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Frasier syndrome ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Drash syndrome ClinVar Detail
NM_024426.6(WT1):c.213G>T (p.Pro71=) AND Nephroblastoma ClinVar 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
rs2234582 dbSNP
Genome
hg38
Position
chr11:32,435,148-32,435,148
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1123
Mean of sample read depth (HGVD)
48.88
Standard deviation of sample read depth (HGVD)
21.51
Number of reference allele (HGVD)
2034
Number of alternative allele (HGVD)
212
Allele Frequency (HGVD)
0.0943900267141585
Gene Symbol (HGVD)
WT1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2234582
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0927
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1553
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16756
East Asian Chromosome Counts (ExAC)
134
East Asian Allele Counts (ExAC)
13
East Asian Heterozygous Counts (ExAC)
7
East Asian Homozygous Counts (ExAC)
3
East Asian Allele Frequency (ExAC)
0.09701492537313433
Chromosome Counts in All Race (ExAC)
9576
Allele Counts in All Race (ExAC)
3159
Heterozygous Counts in All Race (ExAC)
2119
Homozygous Counts in All Race (ExAC)
520
Allele Frequency in All Race (ExAC)
0.3298872180451128
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