{{Rsnum
|rsid=4986850
|Gene=BRCA1
|Chromosome=17
|position=43093454
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.03949
|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 | 1.8 | 15.9 | 82.3
| HCB | 0.0 | 1.5 | 98.5
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 1.4 | 98.6
| ASW | 0.0 | 5.4 | 94.6
| CHB | 0.0 | 1.5 | 98.5
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 13.8 | 86.2
| MKK | 0.0 | 3.8 | 96.2
| TSI | 1.0 | 13.7 | 85.3
| 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 (A).
{{ neighbor
| rsid = 1800709
| distance = 444
}}

{{ClinVar
|rsid=4986850
|Reversed=1
|FwdREF=G
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=41245471
|CHROM=17
|GMAF=0.0398
|dbSNPBuildID=113
|SSR=0
|SAO=0
|VP=0x050168000000150517100100
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000017.10:g.41245471C>T
|CLNSIG=2
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD
|CAF=0.9605; 0.03949
|CLNACC=RCV000034730.1; RCV000047702.2
|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=17764108
|Title=Polymorphisms in DNA repair genes, ionizing radiation exposure and risk of breast cancer in U.S. Radiologic technologists.
}}

{{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=Asp693Asn
|aa_change_short=D693N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4986850
|overall_frequency_n=572
|overall_frequency_d=10756
|overall_frequency=0.0531796
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.004
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=2
|webscore=N
}}

{{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}}