| Geno
|
Mag
|
Summary
|
| (A;G)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
| (C;G)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
| (G;G)
|
0
|
Normal
|
| (G;T)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
rs80357389 represents a rare variant in the BRCA1 gene. It is also rare in that all three possible alternative alleles are known, and, all three are reported to be pathogenic for breast cancer in ClinVar.
The major (normal) allele is rs80357389(G). The three alternatives are c.4484G>A (R1495K), c.4484G>C (R1495T), and c.4484G>T (R1495M). Note that in (older) publications, due to numbering differences, c.4484 was described as c.4603.
| ClinVar
|
| Risk
|
rs80357389(A;A) rs80357389(C;C) rs80357389(T;T) |
| Alt
|
rs80357389(A;A) rs80357389(C;C) rs80357389(T;T) |
| Reference
|
Rs80357389(G;G) |
| Significance |
Other |
| Disease |
Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified Familial cancer of breast |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41228505C>A; NC_000017.10:g.41228505C>G; NC_000017.10:g.41228505C>T |
| CLNSRC |
Breast Cancer Information Core (BRCA1) UniProtKB (protein) |
| CLNACC |
RCV000031179.6, RCV000048576.6, RCV000131886.3, RCV000159992.3, RCV000238601.1, RCV000462940.1, RCV000236135.1, RCV000258262.1, RCV000031178.6, RCV000048575.2, RCV000162878.2, RCV000479568.1, |
