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rs80359321

From SNPedia

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


Make rs80359321(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336439
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359321
ClinGenrs80359321
ebirs80359321
HLIrs80359321
Exacrs80359321
Varsomers80359321
Maprs80359321
PheGenIrs80359321
hapmaprs80359321
1000 genomesrs80359321
hgdprs80359321
ensemblrs80359321
gopubmedrs80359321
geneviewrs80359321
scholarrs80359321
googlers80359321
pharmgkbrs80359321
gwascentralrs80359321
openSNPrs80359321
23andMers80359321
23andMe allrs80359321
SNP Nexus

SNPshotrs80359321
SNPdbers80359321
MSV3drs80359321
GWAS Ctlgrs80359321
Merged fromRs886038069
Max Magnitude6
rs80359321, also known as 2312del5, c.2084_2088delAGGAA and p.Lys695_Glu696?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359321(-;-) rs80359321(GGAAA;GGAAA)
Alt rs80359321(-;-) rs80359321(GGAAA;GGAAA)
Reference Rs80359321(AGGAA;AGGAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32910577_32910581delGGAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000043941.2, RCV000241255.2,