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rs80359724

From SNPedia

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


Make rs80359724(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32376710
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359724
ebirs80359724
HLIrs80359724
Exacrs80359724
Varsomers80359724
Maprs80359724
PheGenIrs80359724
hapmaprs80359724
1000 genomesrs80359724
hgdprs80359724
ensemblrs80359724
gopubmedrs80359724
geneviewrs80359724
scholarrs80359724
googlers80359724
pharmgkbrs80359724
gwascentralrs80359724
openSNPrs80359724
23andMers80359724
23andMe allrs80359724
SNP Nexus

SNPshotrs80359724
SNPdbers80359724
MSV3drs80359724
GWAS Ctlgrs80359724
Max Magnitude6
rs80359724, also known as 8901delAA, c.8673_8674delAA and p.Thr2891_Arg2892ThrThrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359724(;)
Alt rs80359724(;)
Reference rs80359724(AA;AA)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32950847_32950848delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045598.3, RCV000113985.1, RCV000222868.1,