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rs80359464

From SNPedia

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


Make rs80359464(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339063
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359464
ebirs80359464
HLIrs80359464
Exacrs80359464
Varsomers80359464
Maprs80359464
PheGenIrs80359464
hapmaprs80359464
1000 genomesrs80359464
hgdprs80359464
ensemblrs80359464
gopubmedrs80359464
geneviewrs80359464
scholarrs80359464
googlers80359464
pharmgkbrs80359464
gwascentralrs80359464
openSNPrs80359464
23andMers80359464
23andMe allrs80359464
SNP Nexus

SNPshotrs80359464
SNPdbers80359464
MSV3drs80359464
GWAS Ctlgrs80359464
Max Magnitude6
rs80359464, also known as 4936delAG, c.4708_4709delAG and p.Arg1570=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359464(;)
Alt rs80359464(;)
Reference rs80359464(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32913204_32913205delAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031500.6, RCV000044474.2, RCV000164613.1, RCV000213951.1,