chr13:32340219:C>A Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,914,356-32,914,356 View the variant detail on this assembly version. |
| hg38 | chr13:32,340,219-32,340,219 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.5864C>A | NP_000050.2:p.Ser1955Ter |
| Ensemble | ENST00000380152.8:c.5864C>A | ENST00000380152.8:p.Ser1955Ter |
| ENST00000530893.7:c.5495C>A | ENST00000530893.7:p.Ser1832Ter |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-28 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2016-04-22 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-12-28 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-12-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2017-02-23 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2020-12-02 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
unknown
|
Detail | ||
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-23 | criteria provided, single submitter | medulloblastoma,Glioma susceptibility 3,Malignant tumor of prostate,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1,Fanconi anemia complementation group D1,Familial cancer of breast,Breast-ovarian cancer, familial, susceptibility to, 2 |
unknown
|
Detail |
|
Pathogenic
|
2023-10-11 | criteria provided, single submitter | Familial cancer of breast |
unknown
|
Detail |
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 |
|---|---|---|
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND not specified | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND Malignant tumor of breast | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) AND Familial cancer of breast | ClinVar | Detail |
| 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
- -
- dbSNP
- rs80358815 dbSNP
- Genome
- hg38
- Position
- chr13:32,340,219-32,340,219
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 120994
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.264872638312644E-6
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