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rs80359412

From SNPedia

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


Make rs80359412(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338220
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359412
ebirs80359412
HLIrs80359412
Exacrs80359412
Varsomers80359412
Maprs80359412
PheGenIrs80359412
hapmaprs80359412
1000 genomesrs80359412
hgdprs80359412
ensemblrs80359412
gopubmedrs80359412
geneviewrs80359412
scholarrs80359412
googlers80359412
pharmgkbrs80359412
gwascentralrs80359412
openSNPrs80359412
23andMers80359412
23andMe allrs80359412
SNP Nexus

SNPshotrs80359412
SNPdbers80359412
MSV3drs80359412
GWAS Ctlgrs80359412
Max Magnitude6
rs80359412, also known as 4093del4, c.3865_3868delAAAT and p.Lys1289_Cys1290?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359412(;)
Alt rs80359412(;)
Reference rs80359412(AATA;AATA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912357_32912360delAAAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031443.5, RCV000044292.3, RCV000216772.1,