{{Rsnum
|rsid=3218695
|Gene=ATM
|Chromosome=11
|position=108259051
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=ATM
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 4.8 | 95.2
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}This SNP, a variant in the [[ATM]] gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for [[breast cancer]]. {{PMID|17341484}}

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for [[breast cancer]], refer to the SNPedia [[breast cancer]] entry.

For this particular SNP, the risk (minor) allele is (A).

{{GET Evidence
|gene=ATM
|aa_change=Asp814Glu
|aa_change_short=D814E
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs3218695
|overall_frequency_n=67
|overall_frequency_d=10754
|overall_frequency=0.00623024
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=4
|qualityscore_treatability=4
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=4
|n_web_uneval=3
|variant_evidence=0
|clinical_importance=0
|summary_short=May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}