{{Rsnum
|rsid=1800054
|Gene=ATM
|Chromosome=11
|position=108227849
|Orientation=plus
|GMAF=0.00551
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=ATM
}}[[rs1800054]], also known as S49C, is a SNP in the [[ATM]] gene.

A large meta-analysis published in 2011, comprising 26,000+ [[breast cancer]] cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 [[ATM]] gene SNPs, of which this is one.{{PMID|20826828|OA=1
}}
{{omim
|id=607585
|rsnum=1800054
|variant=0032
}}

{{ClinVar
|rsid=1800054
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=108098576
|CHROM=11
|GMAF=0.0055
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050168000000040516110100
|GENEINFO=ATM:472
|GENE_NAME=ATM
|GENE_ID=472
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.108098576C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607585.0032
|CLNSIG=255
|CLNCUI=CN068448
|CLNDBN=Breast cancer, susceptibility to
|Disease=Breast cancer
|CLNACC=RCV000003189.1
|Tags=PM;PMC;SLO;VLD;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9945; 0.00551
|CLNDSDB=MedGen
|CLNDSDBID=CN068448
|COMMON=1
}}

{{PMID|17293864}} A common coding variant in CASP8 is associated with breast cancer risk.

{{PMID|17431766}} Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.

{{PMID|20452958|OA=1
}} Single-nucleotide polymorphisms in the p53 signaling pathway.

{{PMID|20605201|OA=1
}} Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.

{{GET Evidence
|gene=ATM
|aa_change=Ser49Cys
|aa_change_short=S49C
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1800054
|overall_frequency_n=107
|overall_frequency_d=10750
|overall_frequency=0.00995349
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=May be associated with a small increased risk of breast cancer.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}