rs41293459
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;G: increased risk for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,063,930 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs41293459 on the minus strand: (C;C), (C;T), (G;G). 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 140 words
rs41293459, also known as R1699Q, is a SNP in the BRCA1 gene. The more common (C) allele (on the dbSNP forward strand) encodes the amino acid arginine (R), while the rare (T) allele encodes glutamine (Q). Note: dbSNP flipped the orientation of this SNP from the reverse strand (in assembly GRCh37) to the forward strand (in assembly GRCh38), so be wary of potential strand/allele confusion. An analysis of 68 families with breast cancer and this R1699Q mutation indicated that it is associated with intermediate risk of breast and ovarian cancer. To put it another way, it's not as bad as the classic BRCA1 mutations, but it's not benign either; the estimated cumulative risks of developing breast cancer or ovarian cancer by age 70 for R1699Q carriers is 24%.
A;G
This is a BRCA1 variant is associated with intermediate risk of breast and ovarian cancer.
Source and license
Adapted from rs41293459 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.