The UMD-BRCA2 mutations database
Mutation
c.IVS6+2T>C (c.516+2T>C)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| AAGgtaaat |
| AAGgcaaat |
| -30.9 % |
 |
Data for this mutation
Co occurrence of BRCA1 and BRCA2 mutations
(Pathogenic mutations, Unclassified variants, Non-pathogenic variation)
| Sample ID | BRCA2 | BRCA1 |
|---|---|---|
| ---CP68 | - | - |
| ---CQ02 | - | - |
| ---CT28 | - | c.3717T>A (p.Ser1239Ser) |
| ---DD32 | - | - |
| ---IM05 | - | - |
Evidences
| Analysis | Result | Date | Origin | PMID/dbSNP |
|---|---|---|---|---|
| Guidelines for splicing analysis in molecular diagnosis | c.516+2T>C variant leads to exon 6 skipping in PAXgene. Splice class: 3S. | 13/04/12 | Houdayer C. et al., Hum Mutat. 2012 | |
| Population frequency in ESP (esp6500si_all) | NA | 3/07/17 | Automatic annotation by UMD | |
| Population frequency in 1000 genomes project (1000g2014oct_all) | NA | 3/07/17 | Automatic annotation by UMD | |
| dbSNP | NA | 3/07/17 | Automatic annotation by UMD | |
| Population frequency in ExAC (exac03) | NA | 3/07/17 | Automatic annotation by UMD |
Curators' annotation
| Biological significance | Validated by | Date | Comment |
|---|---|---|---|
| 5 - Causal | - | 2/05/17 | Canonical splicing site abolition leading to exon 6 skipping. |