{{Rsnum
|rsid=4986852
|Gene=BRCA1
|Chromosome=17
|position=43092412
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.01194
|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 | 0.0 | 8.8 | 91.2
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 5.6 | 94.4
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 1.0 | 99.0
| GIH | 0.0 | 3.1 | 96.9
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 2.6 | 97.4
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}[[rs4986852]] is a SNP causing an amino acid change in the breast cancer 1 [[BRCA1]] gene at amino position 1040. The more common [[rs4986852]](G) allele encodes Ser, while the rare [[rs4986852]](A) allele encodes Asn; this variation is also known as Ser1040Asn or S1040N.

A well known study published in 1994 looked at 10 family pedigrees with [[breast cancer]] and [[ovarian cancer]] susceptibility, including 63 [[breast cancer]] patients, and discovered what they believed were seven putative disease-causing mutations. [[rs4986852]] was one of these variants. {{PMID|7894493}}

* See also [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113705&a=113705_AllelicVariant0011 Omim 113705.0011]

{{ neighbor
| rsid = 1800709
| distance = 598
}}

{{ neighbor
| rsid = 2227945
| distance = 299
}}

{{omim
|id=113705
|rsnum=4986852
|variant=0011
}}

{{ClinVar
|rsid=4986852
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=41244429
|CHROM=17
|GMAF=0.0119
|dbSNPBuildID=113
|SSR=0
|SAO=1
|VP=0x050168000000150517110101
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.41244429C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=113705.0011
|CLNSIG=255
|CLNCUI=C2676676
|CLNDBN=Breast-ovarian cancer, familial 1; not provided; Familial cancer of breast
|Disease=Breast-ovarian cancer; not provided; Familial cancer of breast
|CLNACC=RCV000019239.1; RCV000034739.1; RCV000048074.2
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9881; 0.01194
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1247:C2676676:604370:145; NBK1247:C0346153:114480:254843006
|COMMON=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=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=Ser1040Asn
|aa_change_short=S1040N
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs4986852
|overall_frequency_n=185
|overall_frequency_d=10758
|overall_frequency=0.0171965
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.024
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

{{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}}