{{Rsnum
|rsid=16942
|Gene=BRCA1
|Chromosome=17
|position=43091983
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.3242
|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 | 44.2 | 45.1 | 10.6
| HCB | 46.0 | 41.6 | 12.4
| JPT | 53.1 | 38.9 | 8.0
| YRI | 66.0 | 30.6 | 3.4
| ASW | 50.9 | 45.6 | 3.5
| CHB | 46.0 | 41.6 | 12.4
| CHD | 29.6 | 53.7 | 16.7
| GIH | 29.7 | 49.5 | 20.8
| LWK | 62.7 | 31.8 | 5.5
| MEX | 41.4 | 41.4 | 17.2
| MKK | 60.9 | 35.9 | 3.2
| TSI | 40.2 | 48.0 | 11.8
| 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 this particular SNP, the risk (minor) allele is (G).

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 or [[BRCA1 and BRCA2]].

{{ neighbor
| rsid = 2227945
| distance = 130
}}

{{Venter SNP
|rsid=16942
|allele=C
|frequency=0.356
|uid=1103645327477
|type=heterozygous_SNP
|hugo=BRCA1
|ensembl gene=ENSG00000012048
|ensembl transcript=ENST00000309486
|sift=TOLERATED
|disease=Defects in BRCA1 are a cause of genetic susceptibility to ovarian cancer (MIM:113705).
}}

{{PMID Auto
|PMID=21890493
|Title=Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
|OA=1
}}

{{ClinVar
|rsid=16942
|Reversed=1
|FwdREF=A
|FwdALT=G
|REF=T
|ALT=C
|RSPOS=41244000
|CHROM=17
|GMAF=0.3242
|dbSNPBuildID=60
|SSR=0
|SAO=0
|VP=0x05016800000017051f100100
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41244000T>C
|CLNSIG=2
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.6758; 0.3242
|CLNACC=RCV000034742.1; RCV000048229.2
|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=19644020
|Title=Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.
|OA=1
}}

{{GET Evidence
|gene=BRCA1
|aa_change=Lys1183Arg
|aa_change_short=K1183R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs16942
|overall_frequency_n=3170
|overall_frequency_d=10758
|overall_frequency=0.294664
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=29
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-3
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23313170
|Title=Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.
|OA=1
}}

{{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}}