chr13:32914214:CT> Detail (hg19) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,914,214-32,914,215 |
| hg38 | chr13:32,340,077-32,340,078 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.5722_5723delCT | NP_000050.2:p.Leu1908ArgfsTer2 |
| Ensemble | ENST00000380152.8:c.5722_5723delCT | ENST00000380152.8:p.Leu1908ArgfsTer2 |
| ENST00000530893.7:c.5353_5354delCT | ENST00000530893.7:p.Leu1785ArgfsTer2 |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 9 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2018/01/13 | breast, unspecified |
germline
|
MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
|
Pathogenic
|
2021/03/19 | control |
germline
|
MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
2021/03/19 | breast |
germline
|
MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
2021/03/19 | prostate |
germline
|
MGS000049
(TMGS000113) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000154) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Breast-ovarian cancer, familial, susceptibility to, 2 | NA | CLINVAR | Detail | |
| 0.174 | Breast Cancer, Familial | NA | CLINVAR | Detail | |
| 0.391 | Hereditary Breast and Ovarian Cancer Syndrome | NA | CLINVAR | Detail | |
| 0.128 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- -
- Genome
- hg19
- Position
- chr13:32,914,214-32,914,215
- Variant Type
- snv
- Reference Allele
- CT
- Alternative Allele
- -
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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