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rs80359727

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;TTAC) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359727(-;-)
Make rs80359727(TTAC;TTAC)
ReferenceGRCh38 38.1/142
Chromosome13
Position32376785
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359727
ebirs80359727
HLIrs80359727
Exacrs80359727
Varsomers80359727
Maprs80359727
PheGenIrs80359727
hapmaprs80359727
1000 genomesrs80359727
hgdprs80359727
ensemblrs80359727
gopubmedrs80359727
geneviewrs80359727
scholarrs80359727
googlers80359727
pharmgkbrs80359727
gwascentralrs80359727
openSNPrs80359727
23andMers80359727
23andMe allrs80359727
SNP Nexus

SNPshotrs80359727
SNPdbers80359727
MSV3drs80359727
GWAS Ctlgrs80359727
Max Magnitude6
rs80359727, also known as 8976ins4, c.8748_8749insTTAC and p.Tyr2916_Leu2917?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359727(CTTA;CTTA)
Alt rs80359727(CTTA;CTTA)
Reference rs80359727(;)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32950919_32950922dupTTAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113991.1, RCV000228171.1,