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

rs80358789

From SNPedia

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


Make rs80358789(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340010
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358789
ebirs80358789
HLIrs80358789
Exacrs80358789
Varsomers80358789
Maprs80358789
PheGenIrs80358789
hapmaprs80358789
1000 genomesrs80358789
hgdprs80358789
ensemblrs80358789
gopubmedrs80358789
geneviewrs80358789
scholarrs80358789
googlers80358789
pharmgkbrs80358789
gwascentralrs80358789
openSNPrs80358789
23andMers80358789
23andMe allrs80358789
SNP Nexus

SNPshotrs80358789
SNPdbers80358789
MSV3drs80358789
GWAS Ctlgrs80358789
Max Magnitude6
rs80358789, also known as C1885X, c.5655C>A and p.Cys1885Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358789(A;A)
Alt rs80358789(A;A)
Reference rs80358789(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32914147C>A
CLNSRC ClinVar
CLNACC RCV000031566.5, RCV000044709.3, RCV000160093.2, RCV000220539.1,