{{Rsnum
|rsid=2227945
|Gene=BRCA1
|Chromosome=17
|position=43092113
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.01102
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=BRCA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 99.1 | 0.9 | 0.0
| HCB | 98.5 | 1.5 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 93.7 | 6.3 | 0.0
| ASW | 98.2 | 1.8 | 0.0
| CHB | 98.5 | 1.5 | 0.0
| 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 [[BRCA1]] 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 (G).
{{ neighbor
| rsid = 16942
| distance = 130
}}
{{ neighbor
| rsid = 4986852
| distance = 299
}}

{{ClinVar
|rsid=2227945
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=41244130
|CHROM=17
|GMAF=0.0114
|dbSNPBuildID=98
|SSR=0
|SAO=0
|VP=0x050160000000150517100100
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41244130T>C
|CLNSIG=2
|Tags=RV;PM;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.989; 0.01102
|CLNACC=RCV000034741.1; RCV000048187.2
|CLNDBN=not provided; Familial cancer of breast
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1247:C0346153:114480:254843006
|COMMON=1
|Disease=not provided; Familial cancer of breast
}}

{{GET Evidence
|gene=BRCA1
|aa_change=Ser1140Gly
|aa_change_short=S1140G
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2227945
|overall_frequency_n=125
|overall_frequency_d=10758
|overall_frequency=0.0116193
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.007
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=2
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}