| Geno
|
Mag
|
Summary
|
| (G;G)
|
0
|
Normal
|
| (G;T)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
rs80356991, also known as E143X, c.427G>T and p.Glu143Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
| ClinVar
|
| Risk
|
rs80356991(A;A) rs80356991(C;C) rs80356991(T;T) |
| Alt
|
rs80356991(A;A) rs80356991(C;C) rs80356991(T;T) |
| Reference
|
Rs80356991(G;G) |
| Significance |
Pathogenic |
| Disease |
Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41256153C>A; NC_000017.10:g.41256153C>G; NC_000017.10:g.41256153C>T |
| CLNSRC |
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation |
| CLNACC |
RCV000031162.8, RCV000048511.4, RCV000074592.7, RCV000162876.3, RCV000465234.1, RCV000214652.1, RCV000031161.6, RCV000048510.6, RCV000159939.2, RCV000162967.1, |
