|(-;CT)||6||BRCA1 (breast cancer) 185delAG carrier|
|Status||Merged into rs386833395|
rs796856605, also known as 185delAG, 187delAG, c.66_67delAG, c.68_69delAG and p.Leu22_Glu23LeuValfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar and all major BRCA databases. See below for another rs-identifier denoting this mutation.
This mutation is well known but actually quite rare; for example, out of 120,000 alleles counted (from ~60,000 people) by ExAC, it was seen only about 30 times (i.e. it was present in one copy in about 30 of those 60,000 people), leading to an allele frequency of 0.00024, or, to put it another way, to being present in only about 1 out of every 2,000 people. [note: in ExAC, this mutation is correctly listed as occurring at GRCh37 position 17:41276044 as an ACT/A variant; however, the rs-id/SNP designation is incorrect in ExAC.]
Because of a natural dinucleotide repeat right where this mutation occurs, rs796856605 represents the same deletion of two bases, and therefore the same mutation, as rs386833395 or perhaps rs80357783.
rs796856605 as well as rs386833395 are referred to as i4000377 by 23andMe. Another name that appears to be used by 23andMe for this mutation is i5009999, however, 23andMe is currently not choosing to publicly confirm or deny this.
|Disease||Breast-ovarian cancer Pancreatic cancer 4 Hereditary breast and ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not provided|
|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|
|CLNSRC||Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant|
|CLNACC||RCV000019230.17, RCV000019231.3, RCV000034761.7, RCV000056295.6, RCV000131394.4, RCV000213650.2,|