rs28897686
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is A;C: BRCA1 pathogenic mutation associated with breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,091,783 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TGoodBenign BRCA1 variant
- C;CGoodcommon in clinvar
- A;CMost notableBadBRCA1 pathogenic mutation associated with breast cancer
SNPedia records rs28897686 on the minus strand: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in one HapMap population.
- Japanese (Tokyo)C;T 0% C;C 1% A;C 99%
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
- rs28897698A;CBRCA1 variant considered pathogenic for breast cancerVery important
Notes
From SNPedia
Show notes, about 130 words
rs28897686, also known as E1250X, c.3748G>T,3867G>T and p.Glu1250Ter, is a variant in the BRCA1 gene. The rare G>T variant allele is considered pathogenic by multiple submitters to ClinVar for breast cancer. Note that a G>A allele also is known, however, the clinical significance is unknown. See also OMIM 113705.0013 Note that the 23andMe representation of this SNP is unclear; on the forward strand (in contrast to dbSNP and SNPedia), the alleles being stated as being tested for rs28897686 and i5010145 are C and T, which would correspond to the G>A allele of unknown clinical significance. The G>T allele that is clinically significant does not appear to be tested on a 23andMe microarray.
C;T
see discussion at rs28897686
A;C
see discussion at rs28897686.
Source and license
Adapted from rs28897686 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.