Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359714

From SNPedia

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


Make rs80359714(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32371001
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359714
ebirs80359714
HLIrs80359714
Exacrs80359714
Varsomers80359714
Maprs80359714
PheGenIrs80359714
hapmaprs80359714
1000 genomesrs80359714
hgdprs80359714
ensemblrs80359714
gopubmedrs80359714
geneviewrs80359714
scholarrs80359714
googlers80359714
pharmgkbrs80359714
gwascentralrs80359714
openSNPrs80359714
23andMers80359714
23andMe allrs80359714
SNP Nexus

SNPshotrs80359714
SNPdbers80359714
MSV3drs80359714
GWAS Ctlgrs80359714
Max Magnitude6
rs80359714, also known as 8761delAG, c.8533_8534delAG and p.Arg2845=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359714(;)
Alt rs80359714(;)
Reference rs80359714(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32945142_32945143delAG
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009915.12, RCV000045550.8, RCV000131085.2, RCV000160308.2,