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rs80359309

From SNPedia

Merged intors80359307
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar


Make rs80359309(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333291
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359309
dbSNP (classic)rs80359309
ClinGenrs80359309
ebirs80359309
HLIrs80359309
Exacrs80359309
Gnomadrs80359309
Varsomers80359309
LitVarrs80359309
Maprs80359309
PheGenIrs80359309
Biobankrs80359309
1000 genomesrs80359309
hgdprs80359309
ensemblrs80359309
geneviewrs80359309
scholarrs80359309
googlers80359309
pharmgkbrs80359309
gwascentralrs80359309
openSNPrs80359309
23andMers80359309
SNPshotrs80359309
SNPdbers80359309
MSV3drs80359309
GWAS Ctlgrs80359309
StatusMerged into rs80359307
Max Magnitude6

rs80359309, also known as c.1813delA, 2041delA, c.1813_1813delA and p.Ile605Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.


rs80359309 has merged into rs80359307

ClinVar
Risk
Alt
Reference Rs80359309(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32907428delA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031344.9, RCV000043896.5, RCV000132177.3, RCV000203637.1,