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rs80359013

From SNPedia

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


Make rs80359013(C;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362595
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359013
dbSNP (classic)rs80359013
ClinGenrs80359013
ebirs80359013
HLIrs80359013
Exacrs80359013
Gnomadrs80359013
Varsomers80359013
LitVarrs80359013
Maprs80359013
PheGenIrs80359013
Biobankrs80359013
1000 genomesrs80359013
hgdprs80359013
ensemblrs80359013
geneviewrs80359013
scholarrs80359013
googlers80359013
pharmgkbrs80359013
gwascentralrs80359013
openSNPrs80359013
23andMers80359013
SNPshotrs80359013
SNPdbers80359013
MSV3drs80359013
GWAS Ctlgrs80359013
Max Magnitude6

aka c.7878G>C (p.Trp2626Cys) and also c.7878G>A (p.Trp2626Ter), both pathogenic for breast cancer

23andMe name for c.7878G>C: i5009321


ClinVar
Risk rs80359013(A;A) rs80359013(C;C)
Alt rs80359013(A;A) rs80359013(C;C)
Reference Rs80359013(G;G)
Significance Other
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32936732G>A; NC_000013.10:g.32936732G>C
CLNSRC ClinVar
CLNACC RCV000031706.7, RCV000045335.3, RCV000217125.1, RCV000237084.1, RCV000031707.7, RCV000045336.4, RCV000163025.2, RCV000482471.1,