chr13:32316463:G>T Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,890,600-32,890,600 View the variant detail on this assembly version. |
| hg38 | chr13:32,316,463-32,316,463 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.3G>T | NP_000050.2:p.? |
| Ensemble | ENST00000380152.8:c.3G>T | ENST00000380152.8:p.? |
| ENST00000530893.7:c.-363G>T |
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
|
2008-09-25 | no assertion criteria provided | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
|
Detail |
|
Pathogenic
|
2018-03-08 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
Likely pathogenic
|
2005-12-13 | no assertion criteria provided | Breast and/or ovarian cancer |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| ovarian cancer | Rucaparib | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 27908594 | Detail |
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 | |
| 0.128 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a phase 2 study of 206 recurrent, platinum-sensitive, high-grade ovarian cancer patients, patient... | CIViC Evidence | Detail |
| NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) AND Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar | Detail |
| NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.3G>T (p.Met1Ile) AND Breast and/or ovarian cancer | ClinVar | 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
- rs80358650 dbSNP
- Genome
- hg38
- Position
- chr13:32,316,463-32,316,463
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- M1I
- Transcript 1 (CIViC Variant)
- ENST00000544455.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1248
Genome browser