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rs80359596

From SNPedia

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


Make rs80359596(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32340817
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359596
ebirs80359596
HLIrs80359596
Exacrs80359596
Varsomers80359596
Maprs80359596
PheGenIrs80359596
hapmaprs80359596
1000 genomesrs80359596
hgdprs80359596
ensemblrs80359596
gopubmedrs80359596
geneviewrs80359596
scholarrs80359596
googlers80359596
pharmgkbrs80359596
gwascentralrs80359596
openSNPrs80359596
23andMers80359596
23andMe allrs80359596
SNP Nexus

SNPshotrs80359596
SNPdbers80359596
MSV3drs80359596
GWAS Ctlgrs80359596
Max Magnitude6
rs80359596, also known as 6690delTC, c.6462_6463delTC and p.Tyr2154_Leu2155=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359596(;)
Alt rs80359596(;)
Reference rs80359596(TC;TC)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed 0
HGVS NC_000013.10:g.32914960_32914961delTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031629.5, RCV000044965.3, RCV000131035.2, RCV000160302.2, RCV000239247.1,