Variant Details for BRCA2
Basic Information Top
| Gene Symbol: | BRCA2 ( BRCC2,BROVCA2,FACD,FAD,FAD1,FANCB,FANCD,FANCD1,GLM3,PNCA2 ) |
|---|---|
| Gene Full Name: | breast cancer 2, early onset |
| Band: | 13q13.1 |
| Quick Links | Entrez ID:675; OMIM: 600185; Uniprot ID:BRCA2_HUMAN; ENSEMBL ID: ENSG00000139618; HGNC ID: 1101 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 5 | 0 | 0 | 0 | 0 | 6 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000265 | 13 | 13q12-13 | 29623000 | 39160000 | 9537000 | loss | external link | Smith, 2002 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 13 | 32915264 | G | A | c.6772G>A | p.Glu2258Lys | Sanger sequencing | neutral | 0.0395 | Neale BM, 2012 |
| 13 | 32929306 | G | A | c.7316G>A | p.Gly2439Glu | Sanger sequencing | neutral | 0.4272 | Neale BM, 2012 |
| 13 | 32915264 | G | A | Sanger sequencing | neutral | 0.0395 | De Rubeis S, 2014 | ||
| 13 | 32929306 | G | A | Sanger sequencing | neutral | 0.4272 | De Rubeis S, 2014 | ||
| 13 | 32968952 | G | A | Sanger sequencing | deleterious | 0.9696 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| No related data! | |||||||