rs28997576

A SNP in the BARD1 gene on chromosome 2. Its most notable genotype is G;G: probably increased risk of breast cancer

Gene: BARD1
Location: Chr 2214,752,454 (GRCh38)
Highest magnitude: 2.5Worth knowing
Tested on: 23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency: <1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

SNPedia records rs28997576 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other BARD1 SNPs

All BARD1 SNPs

Notes

From SNPedia

Show notes, about 200 words

rs28997576, aka Cys557Ser or C557S, is a missense variant in the BRCA1 associated RING domain 1 BARD1 gene on chromosome 2. Researchers suggest that BARD1 Cys557Ser (rs28997576) is an ancient variant that confers risk of single and multiple primary breast cancers, and this risk is amplified in carriers of the BRCA2 999del5 (codon 257, exon 9) mutation. For just the rs28997576(C;G) individuals, the reported odds ratio was 1.82 (CI: 1.11-3.01, p = 0.014), but if the person also carries a rs80359671 or rs80359675 BRCA2 999del5 variant, the odds ratio was reported as 3.11 (CI: 1.16-8.40, p = 0.046). Family history was associated with (slightly) increased risk. In 300 breast cancer cases in South Americans, rs28997576(C;G) was associated with increased breast cancer risk if, and only if, there was a family history. The odds ratio was 3.4 (CI: 1.2-10, p = 0.04). In families with at least three BC and/or ovarian cancer cases, risk was further increased in the carriers of the rs861539 XRCC3 241Met variant; to a reported odds ratio of 5.01 (CI: 1.36-18.5, p = 0.02).

G;G

Due to orientation issues, this snp was problematic, but is not believe to be stabilized correctly.

Source and license

Adapted from rs28997576 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.