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rs80359533

From SNPedia

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


Make rs80359533(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326556
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359533
ebirs80359533
HLIrs80359533
Exacrs80359533
Varsomers80359533
Maprs80359533
PheGenIrs80359533
hapmaprs80359533
1000 genomesrs80359533
hgdprs80359533
ensemblrs80359533
gopubmedrs80359533
geneviewrs80359533
scholarrs80359533
googlers80359533
pharmgkbrs80359533
gwascentralrs80359533
openSNPrs80359533
23andMers80359533
23andMe allrs80359533
SNP Nexus

SNPshotrs80359533
SNPdbers80359533
MSV3drs80359533
GWAS Ctlgrs80359533
Max Magnitude6
rs80359533, also known as 802delAT, c.574_575delAT and p.Met192Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359533(;)
Alt rs80359533(;)
Reference rs80359533(AT;AT)
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.32900693_32900694delAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031574.5, RCV000044741.4, RCV000131852.3, RCV000235138.1,