Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359307

From SNPedia

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


Make rs80359307(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32333284
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359307
ebirs80359307
HLIrs80359307
Exacrs80359307
Varsomers80359307
Maprs80359307
PheGenIrs80359307
hapmaprs80359307
1000 genomesrs80359307
hgdprs80359307
ensemblrs80359307
gopubmedrs80359307
geneviewrs80359307
scholarrs80359307
googlers80359307
pharmgkbrs80359307
gwascentralrs80359307
openSNPrs80359307
23andMers80359307
23andMe allrs80359307
SNP Nexus

SNPshotrs80359307
SNPdbers80359307
MSV3drs80359307
GWAS Ctlgrs80359307
Max Magnitude6
rs80359307, also known as 2034delA, c.1806_1806delA and p.Gly602=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359307(;)
Alt rs80359307(;)
Reference rs80359307(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,