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rs28897756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 BRCA2, breast cancer mutation
(A;G) 6 considered a causal BRCA2 mutation for breast cancer
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome13
Position32379913
GeneBRCA2
is asnp
is mentioned by
dbSNPrs28897756
ebirs28897756
HLIrs28897756
Exacrs28897756
Varsomers28897756
Maprs28897756
PheGenIrs28897756
hapmaprs28897756
1000 genomesrs28897756
hgdprs28897756
ensemblrs28897756
gopubmedrs28897756
geneviewrs28897756
scholarrs28897756
googlers28897756
pharmgkbrs28897756
gwascentralrs28897756
openSNPrs28897756
23andMers28897756
23andMe allrs28897756
SNP Nexus

SNPshotrs28897756
SNPdbers28897756
MSV3drs28897756
GWAS Ctlgrs28897756
Max Magnitude6
rs28897756, also known as 9345G>A, c.9117G>A, p.Pro3039= and P3039P is a SNP in the breast cancer 2 BRCA2 gene.

The rare rs28897756(A) allele has been linked to increased risk for breast cancer in some Dutch families.[PMID 10638982OA-icon.png]. It is considered a causal mutation for breast cancer by UMD and is denoted pathogenic in ClinVar.

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

Another name used by 23andMe for this SNP is i5010626.

ClinVar
Risk rs28897756(A;A)
Alt rs28897756(A;A)
Reference rs28897756(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32954050G>A
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031798.5, RCV000045725.4, RCV000074560.6, RCV000131039.2,