rs28909982
A SNP in the CHEK2 gene on chromosome 22. Its most notable genotype is C;T: 2x higher risk for breast cancer
- Gene
- CHEK2
- Location
- Chr 2228,725,338 (GRCh38)
- Highest magnitude
- 2.9Worth knowing
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TMost notableBad2x higher risk for breast cancer
SNPedia records rs28909982 on the minus strand: (A;A), (A;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other CHEK2 SNPs
- rs121908702A;CBreast cancer associated mutationVery important
- rs137853007A;GBreast cancer associated mutationVery important
- rs587780183-;ABreast cancer associated mutationVery important
- rs587780184-;ABreast cancer associated mutationVery important
- rs587780186-;CBreast cancer associated mutationVery important
- rs587781269A;GBreast cancer associated mutationVery important
- rs587781592A;GBreast cancer associated mutationVery important
- rs587781699C;TBreast cancer associated mutationVery important
Notes
From SNPedia
Notes
rs28909982, also known as c.349A>G or p.Arg117Gly, represents a very rare mutation in the CHEK2 gene on chromosome 22. A 2016 publication study involving 42,000 breast cancer cases concluded that rs28909982(G) carriers had an odds ratio of 2.0 (CI:1.1-3.7; p=0.003).
C;T
see discussion at rs28909982
Source and license
Adapted from rs28909982 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.