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

rs80359687

From SNPedia

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


Make rs80359687(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32362630
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359687
ebirs80359687
HLIrs80359687
Exacrs80359687
Varsomers80359687
Maprs80359687
PheGenIrs80359687
hapmaprs80359687
1000 genomesrs80359687
hgdprs80359687
ensemblrs80359687
gopubmedrs80359687
geneviewrs80359687
scholarrs80359687
googlers80359687
pharmgkbrs80359687
gwascentralrs80359687
openSNPrs80359687
23andMers80359687
23andMe allrs80359687
SNP Nexus

SNPshotrs80359687
SNPdbers80359687
MSV3drs80359687
GWAS Ctlgrs80359687
Max Magnitude6
rs80359687, also known as 8141del5, c.7913_7917delTTCCT and p.Phe2638_Pro2639?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359687(;)
Alt rs80359687(;)
Reference rs80359687(CCTTT;CCTTT)
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.32936767_32936771delTTCCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031708.5, RCV000045341.4, RCV000131090.2, RCV000212264.1,