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rs80359616

From SNPedia

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


Make rs80359616(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340999
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359616
ebirs80359616
HLIrs80359616
Exacrs80359616
Varsomers80359616
Maprs80359616
PheGenIrs80359616
hapmaprs80359616
1000 genomesrs80359616
hgdprs80359616
ensemblrs80359616
gopubmedrs80359616
geneviewrs80359616
scholarrs80359616
googlers80359616
pharmgkbrs80359616
gwascentralrs80359616
openSNPrs80359616
23andMers80359616
23andMe allrs80359616
SNP Nexus

SNPshotrs80359616
SNPdbers80359616
MSV3drs80359616
GWAS Ctlgrs80359616
Max Magnitude6
rs80359616, also known as 6872del4, c.6644_6647delACTC and p.Tyr2215_Ser2216?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359616(;)
Alt rs80359616(;)
Reference rs80359616(ACTC;ACTC)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32915136_32915139delACTC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031642.5, RCV000045006.2, RCV000131027.2, RCV000219562.1,