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rs80359775

From SNPedia

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


Make rs80359775(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32398212
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359775
dbSNP (classic)rs80359775
ClinGenrs80359775
ebirs80359775
HLIrs80359775
Exacrs80359775
Gnomadrs80359775
Varsomers80359775
LitVarrs80359775
Maprs80359775
PheGenIrs80359775
Biobankrs80359775
1000 genomesrs80359775
hgdprs80359775
ensemblrs80359775
geneviewrs80359775
scholarrs80359775
googlers80359775
pharmgkbrs80359775
gwascentralrs80359775
openSNPrs80359775
23andMers80359775
SNPshotrs80359775
SNPdbers80359775
MSV3drs80359775
GWAS Ctlgrs80359775
Merged fromRs781465150
Max Magnitude6

aka c.9699_9702delTATG

23andMe name: i5010464


ClinVar
Risk rs80359775(-;-) Rs80359775(TGTA;TGTA)
Alt rs80359775(-;-) Rs80359775(TGTA;TGTA)
Reference Rs80359775(TATG;TATG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified
Reversed 0
HGVS NC_000013.10:g.32972349_32972352delTATG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031843.10, RCV000131044.3, RCV000168365.3, RCV000200978.3,