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rs80359507

From SNPedia

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


Make rs80359507(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339705
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359507
ebirs80359507
HLIrs80359507
Exacrs80359507
Varsomers80359507
Maprs80359507
PheGenIrs80359507
hapmaprs80359507
1000 genomesrs80359507
hgdprs80359507
ensemblrs80359507
gopubmedrs80359507
geneviewrs80359507
scholarrs80359507
googlers80359507
pharmgkbrs80359507
gwascentralrs80359507
openSNPrs80359507
23andMers80359507
23andMe allrs80359507
SNP Nexus

SNPshotrs80359507
SNPdbers80359507
MSV3drs80359507
GWAS Ctlgrs80359507
Max Magnitude6
rs80359507, also known as 5578delAA, c.5350_5351delAA and p.Asn1784Hisfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359507(;)
Alt rs80359507(;)
Reference rs80359507(AA;AA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913842_32913843delAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031540.7, RCV000044639.4, RCV000074537.6, RCV000131110.2,