Geno
|
Mag
|
Summary
|
(;)
|
0
|
common in clinvar
|
(-;-)
|
0
|
Normal
|
(-;A)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
(-;AG)
|
6
|
BRCA1 variant considered pathogenic for breast cancer
|
(AG;AG)
|
0
|
Normal
|
rs80357783, also known as c.68_69delAG (p.Glu23Valfs), is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar. See discussion at rs796856605, since this is another name for this (185delAG) mutation.
ClinVar
|
Risk
|
rs80357783(A;A) rs80357783(C;C) Rs80357783(AG;AG) |
Alt
|
rs80357783(A;A) rs80357783(C;C) Rs80357783(AG;AG) |
Reference
|
Rs80357783(-;-) |
Significance |
Other |
Disease |
Breast-ovarian cancer Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
Variation | info |
---|
Gene |
NBR2 BRCA1 |
CLNDBN |
Breast-ovarian cancer, familial 1 Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Neoplasm of breast |
Reversed |
1 |
HGVS |
NC_000017.10:g.41276047_41276048delCT; NC_000017.10:g.41276048dupT |
CLNSRC |
Breast Cancer Information Core (BRCA1) OMIM Allelic Variant |
CLNACC |
RCV000019230.18, RCV000019231.3, RCV000034761.9, RCV000056295.6, RCV000131394.4, RCV000213650.3, RCV000031272.7, RCV000049087.4, RCV000163427.2, RCV000240681.1, RCV000478017.1, |