chr13:32340301:T> Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,914,438-32,914,438 |
| hg38 | chr13:32,340,301-32,340,301 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.5946delT | NP_000050.2:p.Ser1982ArgfsTer22 |
| Ensemble | ENST00000380152.8:c.5946delT | ENST00000380152.8:p.Ser1982ArgfsTer22 |
| ENST00000530893.7:c.5577delT | ENST00000530893.7:p.Ser1859ArgfsTer22 |
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
|
2023-10-10 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
not applicable
not provided
unknown
|
Detail |
risk factor
|
2016-09-12 | no assertion criteria provided | Pancreatic cancer, susceptibility to, 2 |
not provided
|
Detail |
|
Pathogenic
|
2016-09-12 | no assertion criteria provided | Fanconi anemia complementation group D1 |
not provided
|
Detail |
|
Pathogenic
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2017-02-23 | criteria provided, single submitter | Familial cancer of breast |
germline
|
Detail |
|
Pathogenic
|
2023-03-06 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2017-04-28 | criteria provided, single submitter | BRCA2-related disorder |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Breast neoplasm |
germline
|
Detail | |
|
Pathogenic
|
2022-03-06 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
germline
|
Detail |
not provided
|
no assertion provided | hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1 |
unknown
|
Detail | |
|
not provided
|
no assertion provided | hereditary breast ovarian cancer syndrome,Fanconi anemia complementation group D1 |
unknown
|
Detail | |
|
Pathogenic
|
2023-02-21 | no assertion criteria provided | endometrial carcinoma |
germline
|
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 | |
| 0.560 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | NA | CLINVAR | Detail | |
| 0.120 | Pancreatic cancer, susceptibility to, 2 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Pancreatic cancer, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Fanconi anemia complementation group D1 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Familial cancer of breast | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND BRCA2-related disorder | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast neoplasm | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) AND Endometrial carcinoma | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs80359550 dbSNP
- Genome
- hg38
- Position
- chr13:32,340,301-32,340,301
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- -
- 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)
- 120698
- Allele Counts in All Race (ExAC)
- 32
- Heterozygous Counts in All Race (ExAC)
- 32
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.651245256756533E-4
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