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rs80359463

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AGTCA) 6 BRCA2 variant considered pathogenic for breast cancer
(AAGCTA;AAGTCA) 0 common/normal
(AAGTC;AAGTC) 0 common in clinvar
(AGTCA;AGTCA) 0 common in clinvar


Make rs80359463(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326145
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359463
ebirs80359463
HLIrs80359463
Exacrs80359463
Varsomers80359463
Maprs80359463
PheGenIrs80359463
hapmaprs80359463
1000 genomesrs80359463
hgdprs80359463
ensemblrs80359463
gopubmedrs80359463
geneviewrs80359463
scholarrs80359463
googlers80359463
pharmgkbrs80359463
gwascentralrs80359463
openSNPrs80359463
23andMers80359463
23andMe allrs80359463
SNP Nexus

SNPshotrs80359463
SNPdbers80359463
MSV3drs80359463
GWAS Ctlgrs80359463
Max Magnitude6
rs80359463, also known as 698del5, c.470_474delAGTCA and p.Lys157_Ser158?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359463(;)
Alt rs80359463(;)
Reference rs80359463(AAGTC;AAGTC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32900282_32900286delAGTCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044475.2, RCV000077336.4, RCV000131856.2,