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rs80358464

From SNPedia

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


Make rs80358464(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333278
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358464
ebirs80358464
HLIrs80358464
Exacrs80358464
Varsomers80358464
Maprs80358464
PheGenIrs80358464
hapmaprs80358464
1000 genomesrs80358464
hgdprs80358464
ensemblrs80358464
gopubmedrs80358464
geneviewrs80358464
scholarrs80358464
googlers80358464
pharmgkbrs80358464
gwascentralrs80358464
openSNPrs80358464
23andMers80358464
23andMe allrs80358464
SNP Nexus

SNPshotrs80358464
SNPdbers80358464
MSV3drs80358464
GWAS Ctlgrs80358464
Max Magnitude6
rs80358464, also known as Y600X, c.1800T>G and p.Tyr600Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358464(A,C,G;A,C,G)
Alt rs80358464(A,C,G;A,C,G)
Reference rs80358464(T;T)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32907415T>A; NC_000013.10:g.32907415T>C; NC_000013.10:g.32907415T>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000031340.4, RCV000131060.2, RCV000216426.1, RCV000233828.1, RCV000043892.2, RCV000077266.4, RCV000162912.1,