||185delAG BRCA1 mutation genotype
||BRCA1 (breast cancer) 185delAG carrier
||common in clinvar
rs386833395, 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 in most populations; 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.
Formerly (being being merged into rs386833395) this SNP was also known as rs796856605.
This 185delAG mutation is considered a founder mutation among Ashkenazi Jews.
rs386833395 as well as rs796856605 are referred to as i4000377 by 23andMe.