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rs80359686

From SNPedia

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


Make rs80359686(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32362627
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359686
ebirs80359686
HLIrs80359686
Exacrs80359686
Varsomers80359686
Maprs80359686
PheGenIrs80359686
hapmaprs80359686
1000 genomesrs80359686
hgdprs80359686
ensemblrs80359686
gopubmedrs80359686
geneviewrs80359686
scholarrs80359686
googlers80359686
pharmgkbrs80359686
gwascentralrs80359686
openSNPrs80359686
23andMers80359686
23andMe allrs80359686
SNP Nexus

SNPshotrs80359686
SNPdbers80359686
MSV3drs80359686
GWAS Ctlgrs80359686
Max Magnitude6
rs80359686, also known as 8138del5, c.7910_7914delCCTTT and p.Ala2637_Phe2638?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359686(;)
Alt rs80359686(;)
Reference rs80359686(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,