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rs80359598

From SNPedia

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


Make rs80359598(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340841
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359598
ebirs80359598
HLIrs80359598
Exacrs80359598
Varsomers80359598
Maprs80359598
PheGenIrs80359598
hapmaprs80359598
1000 genomesrs80359598
hgdprs80359598
ensemblrs80359598
gopubmedrs80359598
geneviewrs80359598
scholarrs80359598
googlers80359598
pharmgkbrs80359598
gwascentralrs80359598
openSNPrs80359598
23andMers80359598
23andMe allrs80359598
SNP Nexus

SNPshotrs80359598
SNPdbers80359598
MSV3drs80359598
GWAS Ctlgrs80359598
Max Magnitude6
rs80359598, also known as 6714del4, c.6486_6489delACAA and p.Lys2162_Gln2163?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359598(;)
Alt rs80359598(;)
Reference rs80359598(ACAA;ACAA)
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.32914978_32914981delACAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031630.6, RCV000044967.4, RCV000131034.2, RCV000212249.1,