rs138734772
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | BRCA2 variant considered pathogenic for breast cancer |
| Make rs138734772(C;C) |
| Make rs138734772(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 32333072 |
| Gene | BRCA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs138734772 |
| dbSNP (classic) | rs138734772 |
| ClinGen | rs138734772 |
| ebi | rs138734772 |
| HLI | rs138734772 |
| Exac | rs138734772 |
| Gnomad | rs138734772 |
| Varsome | rs138734772 |
| LitVar | rs138734772 |
| Map | rs138734772 |
| PheGenI | rs138734772 |
| Biobank | rs138734772 |
| 1000 genomes | rs138734772 |
| hgdp | rs138734772 |
| ensembl | rs138734772 |
| geneview | rs138734772 |
| scholar | rs138734772 |
| rs138734772 | |
| pharmgkb | rs138734772 |
| gwascentral | rs138734772 |
| openSNP | rs138734772 |
| 23andMe | rs138734772 |
| SNPshot | rs138734772 |
| SNPdbe | rs138734772 |
| MSV3d | rs138734772 |
| GWAS Ctlg | rs138734772 |
| Max Magnitude | 6 |
Pathogenic variant is also known as c.1594G>T (p.Glu532Ter); but note existence of c.1594G>A (p.Glu532Lys) and c.1594G>C (p.Glu532Gln), both of which are considered variants of uncertain significance in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs138734772(A;A) rs138734772(C;C) rs138734772(T;T) |
| Alt | rs138734772(A;A) rs138734772(C;C) rs138734772(T;T) |
| Reference | Rs138734772(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Familial cancer of breast |
| Variation | info |
| Gene | BRCA2 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast |
| Reversed | 0 |
| HGVS | NC_000013.10:g.32907209G>A; NC_000013.10:g.32907209G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000168550.2, RCV000210974.1, RCV000043835.2, RCV000257686.2, |
