chr13:32954050:G>A Detail (hg19) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,954,050-32,954,050 |
| hg38 | chr13:32,379,913-32,379,913 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.9117G>A | NP_000050.2:p.Pro3039= |
| Ensemble | ENST00000380152.8:c.9117G>A | ENST00000380152.8:p.Pro3039= |
| ENST00000544455.6:c.9117G>A | ENST00000544455.6:p.Pro3039= |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 11 |
| GWAS entry | |
| Disease area statistics | 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
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2021/03/19 | breast |
germline
|
MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
2021/03/19 | Colorectal |
germline
|
MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
other |
germline
|
MGS000067
(TMGS000139) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | ileum |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-04-23 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
not provided
unknown
|
Detail |
|
Pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-04-19 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2017-05-18 | criteria provided, single submitter | Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Fanconi anemia complementation group D1,medulloblastoma,Familial cancer of breast,Pancreatic cancer, susceptibility to, 2,Wilms tumor 1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Familial cancer of breast,medulloblastoma,Malignant tumor of prostate,Breast-ovarian cancer, familial, susceptibility to, 2,Glioma susceptibility 3,Wilms tumor 1,Pancreatic cancer, susceptibility to, 2,Fanconi anemia complementation group D1 |
unknown
|
Detail |
|
Pathogenic
|
2019-09-01 | no assertion criteria provided | hereditary breast ovarian cancer syndrome,Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
|
Detail |
|
Pathogenic
|
2019-09-01 | no assertion criteria provided | hereditary breast ovarian cancer syndrome,Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
|
Detail |
|
Pathogenic
|
2020-04-02 | criteria provided, single submitter | Breast-ovarian cancer, familial, susceptibility to, 1 |
germline
|
Detail |
|
Pathogenic
|
2021-08-09 | no assertion criteria provided | breast carcinoma |
germline
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
|
Pathogenic
|
2023-09-28 | 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.9117G>A (p.Pro3039=) AND Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND Breast carcinoma | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) AND Gastric cancer | ClinVar | Detail |
| NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) 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
- rs28897756 dbSNP
- Genome
- hg19
- Position
- chr13:32,954,050-32,954,050
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser