Rs28897696

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.