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rs80359460

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359460(-;-)
Make rs80359460(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338986
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359460
ebirs80359460
HLIrs80359460
Exacrs80359460
Varsomers80359460
Maprs80359460
PheGenIrs80359460
hapmaprs80359460
1000 genomesrs80359460
hgdprs80359460
ensemblrs80359460
gopubmedrs80359460
geneviewrs80359460
scholarrs80359460
googlers80359460
pharmgkbrs80359460
gwascentralrs80359460
openSNPrs80359460
23andMers80359460
23andMe allrs80359460
SNP Nexus

SNPshotrs80359460
SNPdbers80359460
MSV3drs80359460
GWAS Ctlgrs80359460
Max Magnitude6
rs80359460, also known as 4859insA, c.4631_4632insA and p.Asn1544?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359460(A;A)
Alt rs80359460(A;A)
Reference rs80359460(;)
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.32913123dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031493.4, RCV000044456.3, RCV000132322.2,