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rs80359365

From SNPedia

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


Make rs80359365(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337312
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359365
ebirs80359365
HLIrs80359365
Exacrs80359365
Varsomers80359365
Maprs80359365
PheGenIrs80359365
hapmaprs80359365
1000 genomesrs80359365
hgdprs80359365
ensemblrs80359365
gopubmedrs80359365
geneviewrs80359365
scholarrs80359365
googlers80359365
pharmgkbrs80359365
gwascentralrs80359365
openSNPrs80359365
23andMers80359365
23andMe allrs80359365
SNP Nexus

SNPshotrs80359365
SNPdbers80359365
MSV3drs80359365
GWAS Ctlgrs80359365
Max Magnitude6
rs80359365, also known as 3185insG, c.2957_2958insG and p.Asn986?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359365(AA,AG;AA,AG)
Alt rs80359365(AA,AG;AA,AG)
Reference rs80359365(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32911449_32911450insG; NC_000013.10:g.32911449dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031392.4, RCV000131097.2, RCV000044094.3, RCV000077700.3, RCV000160274.2, RCV000213454.1,