{{Rsnum
|rsid=1799950
|Gene=BRCA1
|Chromosome=17
|position=43094464
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.02801
|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 | 92.3 | 7.7 | 0.0
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 99.3 | 0.7 | 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.

This particular SNP, [[rs1799950]], was actually the only SNP of the 25 to have an increased odds ratio for [[breast cancer]] to be over 1.5 in carriers and to also be present at a minor allele frequency of over 5%. The odds ratio calculated was 1.72 (P = 0.0002). The risk (minor) allele is (G).

{{PMID Auto
|PMID=22144497
|Title=Assessing the clinical role of genetic markers of early-onset prostate cancer among high-risk men enrolled in prostate cancer early detection
|OA=1
}}

{{ClinVar
|rsid=1799950
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=41246481
|CHROM=17
|GMAF=0.0279
|dbSNPBuildID=89
|SSR=0
|SAO=0
|VP=0x050168000000150517100100
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41246481T>C
|CLNSIG=2
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.972; 0.02801
|CLNACC=RCV000034725.1; RCV000047326.2
|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
}}

{{PMID Auto
|PMID=15743496
|Title=Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=17428325
|Title=Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18701471
|Title=Chromosome 17q12 variants contribute to risk of early-onset prostate cancer.
|OA=1
}}

{{PMID Auto
|PMID=20039378
|Title=Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
|OA=1
}}

{{GET Evidence
|gene=BRCA1
|aa_change=Gln356Arg
|aa_change_short=Q356R
|impact=benign
|qualified_impact=Low clinical importance, Uncertain benign
|inheritance=undefined
|quality_scores=Array
|dbsnp_id=rs1799950
|overall_frequency_n=498
|overall_frequency_d=10758
|overall_frequency=0.0462911
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|pph2_score=0.996
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|max_or_disease_name=BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
|max_or_case_pos=79
|max_or_case_neg=393
|max_or_control_pos=257
|max_or_control_neg=2203
|max_or_or=1.723
|autoscore=5
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association.
}}

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