rs28897696
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is T;T: carrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancer
- Gene
- BRCA1
- Location
- Chr 1743,063,903 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadcarrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancer
- G;TBadBRCA1 variant reported to be pathogenic for breast cancer
- G;GGoodnormal
SNPedia records rs28897696 on the minus strand: (A;A), (A;C), (C;C). 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)T;T 1% G;T 99% G;G 0%
Related
Conditions, medicines and genes
Other BRCA1 SNPs
- 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
- rs28897698A;CBRCA1 variant considered pathogenic for breast cancerVery important
Notes
From SNPedia
Show notes, about 150 words
rs28897696, also known as A1708E, c.5123C>A, 5242C>A and p.Ala1708Glu, is a SNP in the BRCA1 gene. The far more common (C) allele encodes the amino acid alanine (A), while the very rare (A) allele encodes glutamic acid (E). An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association. Although the clinical importance has not been proven, this may still be of use for genetic counseling. More recently, multiple genetic testing labs have reported the rare allele of this SNP to be pathogenic for breast cancer in ClinVar. This mutation is considered a founder mutation in the Columbian Hispanic population.
T;T
see discussion at rs28897696
G;T
see discussion at rs28897696.
Source and license
Adapted from rs28897696 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.