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rs80359605

From SNPedia

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


Make rs80359605(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340946
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359605
ebirs80359605
HLIrs80359605
Exacrs80359605
Varsomers80359605
Maprs80359605
PheGenIrs80359605
hapmaprs80359605
1000 genomesrs80359605
hgdprs80359605
ensemblrs80359605
gopubmedrs80359605
geneviewrs80359605
scholarrs80359605
googlers80359605
pharmgkbrs80359605
gwascentralrs80359605
openSNPrs80359605
23andMers80359605
23andMe allrs80359605
SNP Nexus

SNPshotrs80359605
SNPdbers80359605
MSV3drs80359605
GWAS Ctlgrs80359605
Max Magnitude6
rs80359605, also known as 6819delTG, c.6591_6592delTG and p.Thr2197_Glu2198ThrAsnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359605(;)
Alt rs80359605(;)
Reference rs80359605(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32915083_32915084delTG
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009904.10, RCV000044989.5, RCV000131037.2, RCV000215210.1,