chr13:32319330:G>A Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,893,467-32,893,467 View the variant detail on this assembly version. |
| hg38 | chr13:32,319,330-32,319,330 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.316+5G>A | |
| Ensemble | ENST00000380152.8:c.316+5G>A | |
| ENST00000530893.7:c.-54+5G>A |
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
Likely pathogenic
|
2022-10-17 | criteria provided, multiple submitters, no conflicts | hereditary breast ovarian cancer syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2018-04-01 | reviewed by expert panel | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-09-25 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-02-21 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2013-04-04 | no assertion criteria provided | Breast and/or ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided | Malignant tumor of urinary bladder |
somatic
|
Detail | |
|
Pathogenic
|
2021-08-02 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
germline
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000059.4(BRCA2):c.316+5G>A AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.316+5G>A AND Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.316+5G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.316+5G>A AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.316+5G>A AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_000059.4(BRCA2):c.316+5G>A AND Malignant tumor of urinary bladder | ClinVar | Detail |
| NM_000059.4(BRCA2):c.316+5G>A AND Familial cancer of breast | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs81002840 dbSNP
- Genome
- hg38
- Position
- chr13:32,319,330-32,319,330
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser