Have questions? Visit https://www.reddit.com/r/SNPedia

rs28997576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.5 probably increased risk of breast cancer
(C;G) 2 increased risk for breast cancer, at least in predisposed families
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/142
Chromosome2
Position214752454
GeneBARD1
is asnp
is mentioned by
dbSNPrs28997576
ebirs28997576
HLIrs28997576
Exacrs28997576
Varsomers28997576
Maprs28997576
PheGenIrs28997576
hapmaprs28997576
1000 genomesrs28997576
hgdprs28997576
ensemblrs28997576
gopubmedrs28997576
geneviewrs28997576
scholarrs28997576
googlers28997576
pharmgkbrs28997576
gwascentralrs28997576
openSNPrs28997576
23andMers28997576
23andMe allrs28997576
SNP Nexus

SNPshotrs28997576
SNPdbers28997576
MSV3drs28997576
GWAS Ctlgrs28997576
GMAF0.007805
Max Magnitude2.5
OMIM601593
DescBREAST CANCER, SUSCEPTIBILITY TO
Variant0001
Relatedalso
rs28997576, aka Cys557Ser or C557S, is a missense variant in the BRCA1 associated RING domain 1 BARD1 gene on chromosome 2.

[PMID 16768547OA-icon.png] Researchers suggest that BARD1 Cys557Ser (rs28997576) is an ancient variant that confers risk of single and multiple primary breast cancers, 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
Risk rs28997576(A,C;A,C)
Alt rs28997576(A,C;A,C)
Reference rs28997576(G;G)
Significance Other
Disease Breast cancer Hereditary cancer-predisposing syndrome Familial cancer of breast not specified
Variation info
Gene BARD1
CLNDBN Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Familial cancer of breast not specified
Reversed 1
HGVS NC_000002.11:g.215617178C>G
CLNSRC Inc. OMIM Allelic Variant
CLNACC RCV000008511.2, RCV000123823.5, RCV000206640.1, RCV000212134.1,



[PMID 19412175OA-icon.png] Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.


[PMID 19435634] Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia


GET Evidence
BARD1-C557S
aa_change Cys557Ser
aa_change_short C557S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0159881
summary