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rs80359309

From SNPedia

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


Make rs80359309(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333291
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359309
ebirs80359309
HLIrs80359309
Exacrs80359309
Varsomers80359309
Maprs80359309
PheGenIrs80359309
hapmaprs80359309
1000 genomesrs80359309
hgdprs80359309
ensemblrs80359309
gopubmedrs80359309
geneviewrs80359309
scholarrs80359309
googlers80359309
pharmgkbrs80359309
gwascentralrs80359309
openSNPrs80359309
23andMers80359309
23andMe allrs80359309
SNP Nexus

SNPshotrs80359309
SNPdbers80359309
MSV3drs80359309
GWAS Ctlgrs80359309
Max Magnitude6
rs80359309, also known as 2041delA, c.1813_1813delA and p.Ile605Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359309(;)
Alt rs80359309(;)
Reference rs80359309(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32907428delA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031344.7, RCV000043896.4, RCV000132177.2, RCV000203637.1,