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rs80358411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358411(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332631
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358411
ebirs80358411
HLIrs80358411
Exacrs80358411
Varsomers80358411
Maprs80358411
PheGenIrs80358411
hapmaprs80358411
1000 genomesrs80358411
hgdprs80358411
ensemblrs80358411
gopubmedrs80358411
geneviewrs80358411
scholarrs80358411
googlers80358411
pharmgkbrs80358411
gwascentralrs80358411
openSNPrs80358411
23andMers80358411
23andMe allrs80358411
SNP Nexus

SNPshotrs80358411
SNPdbers80358411
MSV3drs80358411
GWAS Ctlgrs80358411
Max Magnitude6
rs80358411, also known as K385X, c.1153A>T and p.Lys385Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358411(G,T;G,T)
Alt rs80358411(G,T;G,T)
Reference rs80358411(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906768A>G; NC_000013.10:g.32906768A>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000129633.2, RCV000043748.2, RCV000112887.1,