chr13:32376769:C>T Detail (hg38) (BRCA2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:32,950,906-32,950,906 View the variant detail on this assembly version. |
| hg38 | chr13:32,376,769-32,376,769 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000059.3:c.8732C>T | NP_000050.2:p.Ala2911Val |
| Ensemble | ENST00000380152.8:c.8732C>T | ENST00000380152.8:p.Ala2911Val |
| ENST00000530893.7:c.8363C>T | ENST00000530893.7:p.Ala2788Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2004-02-20 | no assertion criteria provided | Breast-ovarian cancer, familial, susceptibility to, 2 |
germline
|
Detail |
Likely benign
|
2022-01-11 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Uncertain significance
|
2018-05-11 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely benign
|
2023-08-10 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val) AND Breast-ovarian cancer, familial, susceptibility to, ... | ClinVar | Detail |
| NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val) AND not provided | ClinVar | Detail |
| NM_000059.4(BRCA2):c.8732C>T (p.Ala2911Val) AND Hereditary breast ovarian cancer syndrome | ClinVar | 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
- rs80359130 dbSNP
- Genome
- hg38
- Position
- chr13:32,376,769-32,376,769
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser