{{Rsnum
|rsid=799917
|Gene=BRCA1
|Chromosome=17
|position=43092919
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.483
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=BRCA1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 43.4 | 46.0 | 10.6
| HCB | 46.0 | 41.6 | 12.4
| JPT | 53.1 | 38.9 | 8.0
| YRI | 0.0 | 13.6 | 86.4
| ASW | 5.3 | 42.1 | 52.6
| CHB | 46.0 | 41.6 | 12.4
| CHD | 29.4 | 54.1 | 16.5
| GIH | 24.8 | 51.5 | 23.8
| LWK | 1.8 | 19.1 | 79.1
| MEX | 37.9 | 41.4 | 20.7
| MKK | 6.4 | 39.1 | 54.5
| TSI | 35.3 | 52.0 | 12.7
| HapMapRevision=28
}}

{{Venter SNP
|rsid=799917
|allele=A
|frequency=0.358
|uid=1103645327484
|type=homozygous_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).
}}

{{ neighbor
| rsid = 4986852
| distance = 507
}}
{{ neighbor
| rsid = 1800709
| distance = 91
}}

{{PMID Auto
|PMID=20332227
|Title=Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility
|OA=1
}}

{{PMID Auto
|PMID=19672706
|Title=Polymorphisms in the BRCA1 and ABCB1 genes modulate menopausal hormone therapy associated breast cancer risk in postmenopausal women
}}

{{ClinVar
|rsid=799917
|Reversed=1
|FwdREF=C
|FwdALT=A,G,T
|REF=G
|ALT=A,C,T
|RSPOS=41244936
|CHROM=17
|GMAF=0.4831
|dbSNPBuildID=86
|SSR=0
|SAO=0
|VP=0x05016800000015051f110105
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=1; 2; 3
|CLNHGVS=NC_000017.10:g.41244936G>A; NC_000017.10:g.41244936G>C; NC_000017.10:g.41244936G>T
|CLNSIG=3
|CLNCUI=
|CLNACC=
RCV000034735.1; RCV000077111.1; RCV000047899.2
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM;NOV
|CAF=0.517; 0.483; .
|CLNDBN=not provided; Breast-ovarian cancer, familial 1; Familial cancer of breast
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1247:C2676676:604370:145; NBK1247:C0346153:114480:254843006
|COMMON=1
|Disease=not provided; Breast-ovarian cancer; 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=16111488
|Title=Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
|OA=1
}}

{{PMID Auto
|PMID=18559551
|Title=Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests.
}}

{{PMID Auto
|PMID=18937358
|Title=Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals.
|OA=1
}}

{{PMID Auto
|PMID=19276285
|Title=Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19482343
|Title=Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.
}}

{{PMID Auto
|PMID=19484476
|Title=Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women.
}}

{{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
}}

{{PMID Auto
|PMID=20003265
|Title=Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
|OA=1
}}

{{GET Evidence
|gene=BRCA1
|aa_change=Pro871Leu
|aa_change_short=P871L
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs799917
|overall_frequency_n=5333
|overall_frequency_d=10758
|overall_frequency=0.495724
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=57
|n_articles=2
|n_articles_annotated=2
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23964347
|Title=Assessment of the Prognostic Value of Two Common Variants of BRCA1 and BRCA2 Genes in Ovarian Cancer Patients Treated with Cisplatin and Paclitaxel: A Gynecologic Oncology Group Study
|OA=1
}}

{{PMID Auto
|PMID=23619945
|Title=Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.
}}

{{PMID Auto
|PMID=23749772
|Title=A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma.
}}

{{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}}