chr13:32937315:G>T Detail (hg19) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,937,315-32,937,315 |
| hg38 | chr13:32,363,178-32,363,178 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.7977-1G>T | |
| Ensemble | ENST00000530893.7:c.7608-1G>T | |
| ENST00000544455.6:c.7977-1G>T |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1998-11-30 | no assertion criteria provided | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
|
Detail |
|
Pathogenic
|
2023-01-07 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2023-07-17 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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 | |
| 0.391 | 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>T AND Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>T AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.7977-1G>T AND Hereditary cancer-predisposing syndrome | 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
- hg19
- Position
- chr13:32,937,315-32,937,315
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser