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rs80359657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359657(-;-)
Make rs80359657(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356535
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359657
ebirs80359657
HLIrs80359657
Exacrs80359657
Varsomers80359657
Maprs80359657
PheGenIrs80359657
hapmaprs80359657
1000 genomesrs80359657
hgdprs80359657
ensemblrs80359657
gopubmedrs80359657
geneviewrs80359657
scholarrs80359657
googlers80359657
pharmgkbrs80359657
gwascentralrs80359657
openSNPrs80359657
23andMers80359657
23andMe allrs80359657
SNP Nexus

SNPshotrs80359657
SNPdbers80359657
MSV3drs80359657
GWAS Ctlgrs80359657
Max Magnitude6
rs80359657, also known as 7771insA, c.7543_7544insA and p.Thr2515?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359657(A;A)
Alt rs80359657(A;A)
Reference rs80359657(;)
Significance Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32930672dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031683.4, RCV000218934.1,