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rs80359525

From SNPedia

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


Make rs80359525(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339971
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359525
ebirs80359525
HLIrs80359525
Exacrs80359525
Varsomers80359525
Maprs80359525
PheGenIrs80359525
hapmaprs80359525
1000 genomesrs80359525
hgdprs80359525
ensemblrs80359525
gopubmedrs80359525
geneviewrs80359525
scholarrs80359525
googlers80359525
pharmgkbrs80359525
gwascentralrs80359525
openSNPrs80359525
23andMers80359525
23andMe allrs80359525
SNP Nexus

SNPshotrs80359525
SNPdbers80359525
MSV3drs80359525
GWAS Ctlgrs80359525
Max Magnitude6
rs80359525, also known as 5844del5, c.5616_5620delAGTAA and p.Lys1872_Ile1874?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359525(;)
Alt rs80359525(;)
Reference rs80359525(AGTAA;AGTAA)
Significance Pathogenic
Disease not provided Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN not provided Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32914108_32914112delAGTAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044697.5, RCV000077356.4, RCV000131113.2, RCV000195403.1,