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rs80359520

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATTA) 6 BRCA2 variant considered pathogenic for breast cancer
(AATT;AATT) 0 common in clinvar
Make rs80359520(-;-)
Make rs80359520(ATTA;ATTA)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339930
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359520
ebirs80359520
HLIrs80359520
Exacrs80359520
Varsomers80359520
Maprs80359520
PheGenIrs80359520
hapmaprs80359520
1000 genomesrs80359520
hgdprs80359520
ensemblrs80359520
gopubmedrs80359520
geneviewrs80359520
scholarrs80359520
googlers80359520
pharmgkbrs80359520
gwascentralrs80359520
openSNPrs80359520
23andMers80359520
23andMe allrs80359520
SNP Nexus

SNPshotrs80359520
SNPdbers80359520
MSV3drs80359520
GWAS Ctlgrs80359520
Max Magnitude6
rs80359520, also known as 5803del4, c.5575_5578delATTA and p.Ile1859_Lys1860?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359520(;)
Alt rs80359520(;)
Reference rs80359520(AATT;AATT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32914068_32914071delTTAA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031556.8, RCV000044684.5, RCV000131118.3, RCV000160296.2,