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rs80358721

From SNPedia

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


Make rs80358721(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339320
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358721
ebirs80358721
HLIrs80358721
Exacrs80358721
Varsomers80358721
Maprs80358721
PheGenIrs80358721
hapmaprs80358721
1000 genomesrs80358721
hgdprs80358721
ensemblrs80358721
gopubmedrs80358721
geneviewrs80358721
scholarrs80358721
googlers80358721
pharmgkbrs80358721
gwascentralrs80358721
openSNPrs80358721
23andMers80358721
23andMe allrs80358721
SNP Nexus

SNPshotrs80358721
SNPdbers80358721
MSV3drs80358721
GWAS Ctlgrs80358721
Max Magnitude6
rs80358721, also known as Y1655X, c.4965C>G and p.Tyr1655Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358721(A,G;A,G)
Alt rs80358721(A,G;A,G)
Reference rs80358721(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Fanconi anemia Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32913457C>A; NC_000013.10:g.32913457C>G
CLNSRC L.L.C.
CLNACC RCV000044532.2, RCV000083111.3, RCV000031517.6, RCV000044533.5, RCV000128925.2, RCV000194794.1, RCV000195354.3,