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rs80359509

From SNPedia

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


Make rs80359509(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339706
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359509
dbSNP (classic)rs80359509
ClinGenrs80359509
ebirs80359509
HLIrs80359509
Exacrs80359509
Gnomadrs80359509
Varsomers80359509
LitVarrs80359509
Maprs80359509
PheGenIrs80359509
Biobankrs80359509
1000 genomesrs80359509
hgdprs80359509
ensemblrs80359509
geneviewrs80359509
scholarrs80359509
googlers80359509
pharmgkbrs80359509
gwascentralrs80359509
openSNPrs80359509
23andMers80359509
SNPshotrs80359509
SNPdbers80359509
MSV3drs80359509
GWAS Ctlgrs80359509
Max Magnitude6

rs80359509, also known as 5579delA, c.5351_5351delA and p.Asn1784Thrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359509(-;-)
Alt rs80359509(-;-)
Reference Rs80359509(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32913843delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031542.6, RCV000044641.3,