{{Rsnum
|rsid=28997576
|Gene=BARD1
|Chromosome=2
|position=214752454
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.007805
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=BARD1
}}{{omim
|desc=BREAST CANCER, SUSCEPTIBILITY TO
|id=601593
|rsnum=28997576
|variant=0001
}}

[[rs28997576]], aka Cys557Ser or C557S, is a missense variant in the BRCA1 associated RING domain 1 [[BARD1]] gene on chromosome 2.

{{PMID|16768547|OA=1
}} Researchers suggest that BARD1 Cys557Ser (rs28997576) is an ancient variant that confers risk of single and multiple primary [[breast cancer]]s, and this risk is amplified in carriers of the BRCA2 999del5 (codon 257, exon 9) mutation. For just the [[rs28997576]](C;G) individuals, the reported odds ratio was 1.82 (CI: 1.11-3.01, p = 0.014), but if the person also carries a [[rs80359671]] or [[rs80359675]] [[BRCA2]] 999del5 variant, the odds ratio was reported as 3.11 (CI: 1.16-8.40, p = 0.046). Family history was associated with (slightly) increased risk.

{{PMID|22544576}} In 300 [[breast cancer]] cases in South Americans, [[rs28997576]](C;G) was associated with increased breast cancer risk if, and only if, there was a family history. The odds ratio was 3.4 (CI: 1.2-10, p = 0.04). In families with at least three BC and/or ovarian cancer cases, risk was further increased in the carriers of the [[rs861539]] XRCC3 241Met variant; to a reported odds ratio of 5.01 (CI: 1.36-18.5, p = 0.02).
{{ClinVar
|rsid=28997576
|Reversed=1
|FwdREF=G
|FwdALT=A,C
|REF=C
|ALT=G,T
|RSPOS=215617178
|CHROM=2
|GMAF=0.0078
|dbSNPBuildID=125
|SSR=0
|SAO=1
|VP=0x050068000000050516110100
|GENEINFO=BARD1:580
|GENE_NAME=BARD1
|GENE_ID=580
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.215617178C>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=601593.0001
|CLNSIG=255
|CLNCUI=CN068448
|CLNDBN=Breast cancer, susceptibility to
|Disease=Breast cancer
|CLNACC=RCV000008511.1
|Tags=RV;PM;PMC;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9922; 0.007805; .
|CLNDSDB=MedGen
|CLNDSDBID=CN068448
|COMMON=1
}}

{{PMID Auto
|PMID=19412175
|Title=Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
|OA=1
}}

{{PMID Auto
|PMID=19435634
|Title=Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia
}}

{{GET Evidence
|gene=BARD1
|aa_change=Cys557Ser
|aa_change_short=C557S
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs28997576
|overall_frequency_n=172
|overall_frequency_d=10758
|overall_frequency=0.0159881
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|pph2_score=0.464
|nblosum100=3
|autoscore=3
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}