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rs80359470

From SNPedia

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


Make rs80359470(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339231
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359470
ebirs80359470
HLIrs80359470
Exacrs80359470
Varsomers80359470
Maprs80359470
PheGenIrs80359470
hapmaprs80359470
1000 genomesrs80359470
hgdprs80359470
ensemblrs80359470
gopubmedrs80359470
geneviewrs80359470
scholarrs80359470
googlers80359470
pharmgkbrs80359470
gwascentralrs80359470
openSNPrs80359470
23andMers80359470
23andMe allrs80359470
SNP Nexus

SNPshotrs80359470
SNPdbers80359470
MSV3drs80359470
GWAS Ctlgrs80359470
Max Magnitude6
rs80359470, also known as 5104delAA, c.4876_4877delAA and p.Asn1626Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359470(;)
Alt rs80359470(;)
Reference rs80359470(AA;AA)
Significance Pathogenic
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.32913368_32913369delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031510.7, RCV000044510.5, RCV000131079.2, RCV000160293.2,