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rs80359597

From SNPedia

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


Make rs80359597(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340823
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359597
ebirs80359597
HLIrs80359597
Exacrs80359597
Varsomers80359597
Maprs80359597
PheGenIrs80359597
hapmaprs80359597
1000 genomesrs80359597
hgdprs80359597
ensemblrs80359597
gopubmedrs80359597
geneviewrs80359597
scholarrs80359597
googlers80359597
pharmgkbrs80359597
gwascentralrs80359597
openSNPrs80359597
23andMers80359597
23andMe allrs80359597
SNP Nexus

SNPshotrs80359597
SNPdbers80359597
MSV3drs80359597
GWAS Ctlgrs80359597
Max Magnitude6
rs80359597, also known as 6696delTC, c.6468_6469delTC and p.Ser2156_Gln2157SerIlefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359597(;)
Alt rs80359597(;)
Reference rs80359597(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,