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

rs80359461

From SNPedia

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


Make rs80359461(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338986
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359461
ebirs80359461
HLIrs80359461
Exacrs80359461
Varsomers80359461
Maprs80359461
PheGenIrs80359461
hapmaprs80359461
1000 genomesrs80359461
hgdprs80359461
ensemblrs80359461
gopubmedrs80359461
geneviewrs80359461
scholarrs80359461
googlers80359461
pharmgkbrs80359461
gwascentralrs80359461
openSNPrs80359461
23andMers80359461
23andMe allrs80359461
SNP Nexus

SNPshotrs80359461
SNPdbers80359461
MSV3drs80359461
GWAS Ctlgrs80359461
Max Magnitude6
rs80359461, also known as 4859delA, c.4631_4631delA and p.Asn1544Thrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359461(;)
Alt rs80359461(;)
Reference rs80359461(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided not specified
Reversed 0
HGVS NC_000013.10:g.32913123delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031494.6, RCV000044455.6, RCV000130639.2, RCV000160290.2, RCV000239108.1,