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rs80359505

From SNPedia

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


Make rs80359505(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339658
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359505
ebirs80359505
HLIrs80359505
Exacrs80359505
Varsomers80359505
Maprs80359505
PheGenIrs80359505
hapmaprs80359505
1000 genomesrs80359505
hgdprs80359505
ensemblrs80359505
gopubmedrs80359505
geneviewrs80359505
scholarrs80359505
googlers80359505
pharmgkbrs80359505
gwascentralrs80359505
openSNPrs80359505
23andMers80359505
23andMe allrs80359505
SNP Nexus

SNPshotrs80359505
SNPdbers80359505
MSV3drs80359505
GWAS Ctlgrs80359505
Max Magnitude6
rs80359505, also known as 5531delTT, c. 5303_5304delTT and p.Leu1768Argfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359505(;)
Alt rs80359505(;)
Reference rs80359505(TT;TT)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32913795_32913796delTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031538.5, RCV000074536.5, RCV000162923.1, RCV000235139.1,