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rs80359527

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359527(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340036
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359527
ClinGenrs80359527
ebirs80359527
HLIrs80359527
Exacrs80359527
Varsomers80359527
Maprs80359527
PheGenIrs80359527
hapmaprs80359527
1000 genomesrs80359527
hgdprs80359527
ensemblrs80359527
gopubmedrs80359527
geneviewrs80359527
scholarrs80359527
googlers80359527
pharmgkbrs80359527
gwascentralrs80359527
openSNPrs80359527
23andMers80359527
23andMe allrs80359527
SNP Nexus

SNPshotrs80359527
SNPdbers80359527
MSV3drs80359527
GWAS Ctlgrs80359527
Max Magnitude6
rs80359527, also known as 5909insA, c.5681_5682insA and p.Tyr1894?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359527(A;A)
Alt rs80359527(A;A)
Reference Rs80359527(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914173dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031569.6, RCV000044718.3, RCV000129296.3,