{{Rsnum
|rsid = 41293455
|Gene = BRCA1
|Orientation=minus
|ReferenceAllele=C
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=17
|position=43082434
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=BRCA1
}}[[rs41293455]] is a SNP causing an amino acid change in the breast cancer 1 [[BRCA1]] gene at amino position 1443. The more common [[rs41293455]](C) allele encodes Arg, while the rare [[rs41293455]](T) allele encodes a stop codon. Another variant, [[rs41293455]](G), encodes a Gly.

A well known study published in 1994 looked at 50 family pedigrees with [[breast cancer]] and [[ovarian cancer]] susceptibility, discovering what they believed were eight putative disease-causing mutations (four frameshifts, two nonsense mutations) and an additional two missense mutations. [[rs41293455]] was one of these variants. {{PMID|7894491}}

* See also [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113705&a=113705_AllelicVariant0016 Omim 113705.0016]
* See also [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=113705&a=113705_AllelicVariant0017 Omim 113705.0017]

{{omim
|id=113705
|rsnum=41293455
|variant=0016
}}

{{omim
|id=113705
|rsnum=41293455
|variant=0017
}}

{{ClinVar
|rsid=41293455
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=41234451
|CHROM=17
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050160000000000102110100
|GENEINFO=BRCA1:672
|GENE_NAME=BRCA1
|GENE_ID=672
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000017.10:g.41234451G>A; NC_000017.10:g.41234451G>C
|CLNORIGIN=1
|CLNSRCID=
113705.0016; 113705.0017
|CLNSIG=255
|CLNCUI=
|CLNACC=
RCV000019244.3; RCV000048523.2; RCV000019245.1; RCV000048522.2
|Tags=RV;PM;SLO;GNO;OTHERKG;LSD;OM
|CLNDBN=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
|CLNSRC=OMIM Allelic Variant
|Disease=Breast-ovarian cancer; Familial cancer of breast
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}