rs4986852
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is T;T: predisposition to breast cancer?
- Gene
- BRCA1
- Location
- Chr 1743,092,412 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableNot ratedpredisposition to breast cancer?
- C;TNot ratedpossible predisposition to breast cancer
- G;GNot ratedNo summary available.
- C;CGoodnormal
SNPedia records rs4986852 on the minus strand: (A;A), (A;G), (C;C), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 8 HapMap populations.
- AverageT;T 0% C;T 3% G;G 0% C;C 97%
- European ancestry (Utah)T;T 0% C;T 9% G;G 0% C;C 91%
- Han Chinese (Beijing)T;T 0% C;T 0% G;G 0% C;C 100%
- Japanese (Tokyo)T;T 0% C;T 0% G;G 0% C;C 100%
- Yoruba (Nigeria)T;T 0% C;T 0% G;G 0% C;C 100%
- African ancestry (Southwest US)T;T 0% C;T 6% G;G 0% C;C 94%
- Chinese (Denver)T;T 0% C;T 1% G;G 0% C;C 99%
- Gujarati IndianT;T 0% C;T 3% G;G 0% C;C 97%
- Maasai (Kenya)T;T 0% C;T 3% G;G 0% C;C 97%
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
Notes
rs4986852 is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1040. The more common rs4986852(G) allele encodes Ser, while the rare rs4986852(A) allele encodes Asn; this variation is also known as Ser1040Asn or S1040N. A well known study published in 1994 looked at 10 family pedigrees with breast cancer and ovarian cancer susceptibility, including 63 breast cancer patients, and discovered what they believed were seven putative disease-causing mutations. rs4986852 was one of these variants. However, ClinVar classifies this variant (c.3119G>A) as benign. * See also Omim 113705.0011
Source and license
Adapted from rs4986852 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.