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rs80359373

From SNPedia

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


Make rs80359373(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337525
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359373
ebirs80359373
HLIrs80359373
Exacrs80359373
Varsomers80359373
Maprs80359373
PheGenIrs80359373
hapmaprs80359373
1000 genomesrs80359373
hgdprs80359373
ensemblrs80359373
gopubmedrs80359373
geneviewrs80359373
scholarrs80359373
googlers80359373
pharmgkbrs80359373
gwascentralrs80359373
openSNPrs80359373
23andMers80359373
23andMe allrs80359373
SNP Nexus

SNPshotrs80359373
SNPdbers80359373
MSV3drs80359373
GWAS Ctlgrs80359373
Max Magnitude6
rs80359373, also known as 3398del5, c.3170_3174delAGAAA and p.Lys1057_Lys1058?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359373(;)
Alt rs80359373(;)
Reference rs80359373(AAAAG;AAAAG)
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.32911662_32911666delAGAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031407.6, RCV000044141.5, RCV000131091.2, RCV000220190.1,