chr13:32363178:G>C Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,937,315-32,937,315 View the variant detail on this assembly version. |
| hg38 | chr13:32,363,178-32,363,178 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.7977-1G>C | |
| Ensemble | ENST00000380152.8:c.7977-1G>C | |
| ENST00000530893.7:c.7608-1G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
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
unknown
|
Detail |
|
Pathogenic
|
2023-11-30 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-09-14 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2016-02-17 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Pathogenic
|
2023-09-15 | criteria provided, single submitter | Familial cancer of breast |
unknown
|
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 |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | Breast-ovarian cancer, familial, susceptibility to, 2 | 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.7977-1G>C AND Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND not specified | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND Familial cancer of breast | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND multiple conditions | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>C AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs81002874 dbSNP
- Genome
- hg38
- Position
- chr13:32,363,178-32,363,178
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
Genome browser