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rs28897743

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 considered a causal BRCA2 breast cancer mutation
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer


Make rs28897743(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32346896
GeneBRCA2
is asnp
is mentioned by
dbSNPrs28897743
ebirs28897743
HLIrs28897743
Exacrs28897743
Varsomers28897743
Maprs28897743
PheGenIrs28897743
hapmaprs28897743
1000 genomesrs28897743
hgdprs28897743
ensemblrs28897743
gopubmedrs28897743
geneviewrs28897743
scholarrs28897743
googlers28897743
pharmgkbrs28897743
gwascentralrs28897743
openSNPrs28897743
23andMers28897743
23andMe allrs28897743
SNP Nexus

SNPshotrs28897743
SNPdbers28897743
MSV3drs28897743
GWAS Ctlgrs28897743
Max Magnitude6
rs28897743, also known as 7235G>T, c.7007G>T and p.Gly2313AlafsX31, as well as Arg2336His or R2336H, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar and UMD.

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]

23andMe has another SNP for this position, named i5009343.

? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs28897743(A,C,T;A,C,T)
Alt rs28897743(A,C,T;A,C,T)
Reference rs28897743(G;G)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32921033G>A; NC_000013.10:g.32921033G>C; NC_000013.10:g.32921033G>T
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031659.5, RCV000045112.4, RCV000131031.2, RCV000174440.2, RCV000045113.2, RCV000077394.3, RCV000214499.1, RCV000045114.3, RCV000113685.1, RCV000219635.1,