chr11:32456694:C>A Detail (hg19) (WT1, LOC107982234)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:32,456,694-32,456,694 |
| hg38 | chr11:32,435,148-32,435,148 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000378.4:c.213G>T | NP_000369.3:p.Pro71= |
| NM_024424.3:c.213G>T | NP_077742.2:p.Pro71= | |
| NM_024426.4:c.213G>T | NP_077744.3:p.Pro71= |
Summary
MGeND
| Clinical significance |
Benign
|
| Variant entry | 631 |
| 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 | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Benign
|
2020/04/20 | cervical part of oesophagus |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | upper third of oesophagus |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | middle third of oesophagus |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | lower third of oesophagus |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | oesophagus, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | body of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | pyloric antrum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | stomach, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | duodenum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | jejunum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ileum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | small intestine, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | caecum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | appendix |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | transverse colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | colon, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of rectum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | anal canal |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | liver cell carcinoma |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | intrahepatic bile duct carcinoma |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | malignant neoplasm of gallbladder |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | extrahepatic bile duct |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | head of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | body of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | tail of pancreas |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Benign
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
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
| Descrption | Source | Links |
|---|---|---|
| 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
- hg19
- Position
- chr11:32,456,694-32,456,694
- 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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