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rs80359379

From SNPedia

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


Make rs80359379(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337617
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359379
ebirs80359379
HLIrs80359379
Exacrs80359379
Varsomers80359379
Maprs80359379
PheGenIrs80359379
hapmaprs80359379
1000 genomesrs80359379
hgdprs80359379
ensemblrs80359379
gopubmedrs80359379
geneviewrs80359379
scholarrs80359379
googlers80359379
pharmgkbrs80359379
gwascentralrs80359379
openSNPrs80359379
23andMers80359379
23andMe allrs80359379
SNP Nexus

SNPshotrs80359379
SNPdbers80359379
MSV3drs80359379
GWAS Ctlgrs80359379
Max Magnitude6
rs80359379, also known as 3490delCC, c.3262_3263delCC and p.Pro1088Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359379(;)
Alt rs80359379(;)
Reference rs80359379(CC;CC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911754_32911755delCC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044160.2, RCV000113151.1,