rs55861249
A SNP in the ATM gene on chromosome 11. Its most notable genotype is C;T: Carrier of an ataxia-telangiectasia mutation
- Gene
- ATM
- Location
- Chr 11108,227,806 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadCarrier of an ataxia-telangiectasia mutation
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other ATM SNPs
- rs147557621G;TBreast cancer associated mutationVery important
- rs200976093C;TBreast cancer associated mutationVery important
- rs376170600C;GBreast cancer associated mutationVery important
- rs376603775C;TBreast cancer associated mutationVery important
- rs529296539C;GBreast cancer associated mutationVery important
- rs587776551A;GBreast cancer associated mutationVery important
- rs587778080C;TBreast cancer associated mutationVery important
- rs587779813A;GBreast cancer associated mutationVery important
Notes
From SNPedia
Notes
aka c.103C>T (p.Arg35Ter or R35X), but also c.103C>A (p.Arg35=); the former is considered pathogenic but the latter is likely to be benign according to ClinVar R35X is considered to be a founder mutation among North African Jews, according to a paper cited in OMIM.
C;T
Unaffected in absence of a second ATM gene mutation
Source and license
Adapted from rs55861249 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.