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rs80359395

From SNPedia

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


Make rs80359395(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338035
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359395
ebirs80359395
HLIrs80359395
Exacrs80359395
Varsomers80359395
Maprs80359395
PheGenIrs80359395
hapmaprs80359395
1000 genomesrs80359395
hgdprs80359395
ensemblrs80359395
gopubmedrs80359395
geneviewrs80359395
scholarrs80359395
googlers80359395
pharmgkbrs80359395
gwascentralrs80359395
openSNPrs80359395
23andMers80359395
23andMe allrs80359395
SNP Nexus

SNPshotrs80359395
SNPdbers80359395
MSV3drs80359395
GWAS Ctlgrs80359395
Max Magnitude6
rs80359395, also known as 3908delTG, c.3680_3681delTG and p.Leu1227Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359395(;)
Alt rs80359395(;)
Reference rs80359395(TG;TG)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32912172_32912173delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044241.3, RCV000077311.5, RCV000131092.2, RCV000214590.1,