| Geno
|
Mag
|
Summary
|
| (-;-)
|
0
|
Normal
|
| (-;C)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
| (C;C)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
rs80357906, also known as 5382insC, c.5266dupC, c.5263_5264insC and p.Ser1755?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
This BRCA1 mutation is considered a founder mutation in several populations including Ashkenazi Jews.
rs80357906 is equivalent to rs397507247 (which is occasionally found in some older data).
23andMe name: i4000378
| ClinVar
|
| Risk
|
Rs80357906(C;C) |
| Alt
|
Rs80357906(C;C) |
| Reference
|
Rs80357906(-;-) |
| Significance |
Other |
| Disease |
Breast-ovarian cancer Pancreatic cancer Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Ovarian neoplasm |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Breast-ovarian cancer, familial 1 Pancreatic cancer, susceptibility to Familial cancer of breast Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Neoplasm of breast Ovarian neoplasm |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41209082dupG |
| CLNSRC |
Breast Cancer Information Core (BRCA1) OMIM Allelic Variant |
| CLNACC |
RCV000019246.19, RCV000019247.4, RCV000056287.8, RCV000119097.8, RCV000131328.4, RCV000258962.2, RCV000412924.1, RCV000415060.1, |
