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rs80359365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
(-;AAAA) 6 BRCA2 variant considered pathogenic for breast cancer
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome13
Position32337312
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359365
dbSNP (classic)rs80359365
ClinGenrs80359365
ebirs80359365
HLIrs80359365
Exacrs80359365
Gnomadrs80359365
Varsomers80359365
LitVarrs80359365
Maprs80359365
PheGenIrs80359365
Biobankrs80359365
1000 genomesrs80359365
hgdprs80359365
ensemblrs80359365
geneviewrs80359365
scholarrs80359365
googlers80359365
pharmgkbrs80359365
gwascentralrs80359365
openSNPrs80359365
23andMers80359365
SNPshotrs80359365
SNPdbers80359365
MSV3drs80359365
GWAS Ctlgrs80359365
Max Magnitude6

rs80359365, also known as c.2954_2957delAAAA, c.2957delA, 3185insG, c.2957_2958insG, c.2957dupA and p.Asn986?fs, represents at least three variants in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk Rs80359365(A;A) rs80359365(G;G)
Alt Rs80359365(A;A) rs80359365(G;G)
Reference Rs80359365(-;-)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32911449_32911450insG; NC_000013.10:g.32911449dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031392.6, RCV000131097.3, RCV000463291.1, RCV000482218.1, RCV000044094.4, RCV000077700.5, RCV000160274.3, RCV000213454.1,