rs386833395
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is -;-: 185delAG BRCA1 mutation genotype
- Gene
- BRCA1
- Location
- Chr 1743,124,028 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBad185delAG BRCA1 mutation genotype
- -;AGBadBRCA1 (breast cancer) 185delAG carrier
- AG;AGGoodcommon in clinvar
On SNPedia: (-;-), (-;AG), (AG;AG). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other BRCA1 SNPs
- rs28897696T;Tcarrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancerVery important
- rs41286296A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625306A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625307A;GBRCA1 pathogenic mutation associated with breast cancerVery important
- i6051899A;Clikely to be BRCA1 variant pathogenic for breast cancerVery important
- rs1800747C;TBRCA1 pathogenic mutation associated with breast cancerVery important
- rs28897672A;Tconsidered a pathogenic BRCA1 breast cancer variantVery important
- rs28897686A;CBRCA1 pathogenic mutation associated with breast cancerVery important
Notes
From SNPedia
Show notes, about 330 words
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.
-;-
Your results report that you carry the 185delAG BRCA1 mutation. Your lifetime risk of breast cancer (for women) is increased from ~13% to ~81% and risk of ovarian cancer is increased from less than ~2% to over 50%. This SNP may significantly increase the risk of prostate cancer in men. There is also a somewhat increased risk for breast cancer in men from this genotype.
-;AG
Your results report that you carry the 185delAG BRCA1 mutation. Your lifetime risk of breast cancer (for women) is increased from ~13% to ~81% and risk of ovarian cancer is increased from less than ~2% to over 50%. This SNP may significantly increase the risk of prostate cancer in men. There is also a somewhat increased risk for breast cancer in men from this genotype.
Source and license
Adapted from rs386833395 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.