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rs80359710

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359710(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370506
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359710
dbSNP (classic)rs80359710
ClinGenrs80359710
ebirs80359710
HLIrs80359710
Exacrs80359710
Gnomadrs80359710
Varsomers80359710
LitVarrs80359710
Maprs80359710
PheGenIrs80359710
Biobankrs80359710
1000 genomesrs80359710
hgdprs80359710
ensemblrs80359710
geneviewrs80359710
scholarrs80359710
googlers80359710
pharmgkbrs80359710
gwascentralrs80359710
openSNPrs80359710
23andMers80359710
SNPshotrs80359710
SNPdbers80359710
MSV3drs80359710
GWAS Ctlgrs80359710
Max Magnitude6

rs80359710, also known as 8664insA, c.8436_8437insA and p.Gly2812_Gly2813?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359710(A;A)
Alt rs80359710(A;A)
Reference Rs80359710(-;-)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32944643dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045518.2, RCV000113932.2,