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rs80359408

From SNPedia

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


Make rs80359408(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338214
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359408
ebirs80359408
HLIrs80359408
Exacrs80359408
Varsomers80359408
Maprs80359408
PheGenIrs80359408
hapmaprs80359408
1000 genomesrs80359408
hgdprs80359408
ensemblrs80359408
gopubmedrs80359408
geneviewrs80359408
scholarrs80359408
googlers80359408
pharmgkbrs80359408
gwascentralrs80359408
openSNPrs80359408
23andMers80359408
23andMe allrs80359408
SNP Nexus

SNPshotrs80359408
SNPdbers80359408
MSV3drs80359408
GWAS Ctlgrs80359408
Max Magnitude6
rs80359408, also known as 4087delAA, c.3859_3860delAA and p.Asn1287Terfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359408(;)
Alt rs80359408(;)
Reference rs80359408(AA;AA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912351_32912352delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044286.2, RCV000113228.1, RCV000216461.1,