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rs80359519

From SNPedia

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


Make rs80359519(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339897
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359519
ebirs80359519
HLIrs80359519
Exacrs80359519
Varsomers80359519
Maprs80359519
PheGenIrs80359519
hapmaprs80359519
1000 genomesrs80359519
hgdprs80359519
ensemblrs80359519
gopubmedrs80359519
geneviewrs80359519
scholarrs80359519
googlers80359519
pharmgkbrs80359519
gwascentralrs80359519
openSNPrs80359519
23andMers80359519
23andMe allrs80359519
SNP Nexus

SNPshotrs80359519
SNPdbers80359519
MSV3drs80359519
GWAS Ctlgrs80359519
Max Magnitude6
rs80359519, also known as 5770delA, c.5542_5542delA and p.Ser1848Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359519(;)
Alt rs80359519(;)
Reference rs80359519(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914034delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044678.2, RCV000077353.3, RCV000130725.2, RCV000218498.1,