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

rs80359487

From SNPedia

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


Make rs80359487(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339496
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359487
ebirs80359487
HLIrs80359487
Exacrs80359487
Varsomers80359487
Maprs80359487
PheGenIrs80359487
hapmaprs80359487
1000 genomesrs80359487
hgdprs80359487
ensemblrs80359487
gopubmedrs80359487
geneviewrs80359487
scholarrs80359487
googlers80359487
pharmgkbrs80359487
gwascentralrs80359487
openSNPrs80359487
23andMers80359487
23andMe allrs80359487
SNP Nexus

SNPshotrs80359487
SNPdbers80359487
MSV3drs80359487
GWAS Ctlgrs80359487
Max Magnitude6
rs80359487, also known as 5369del4, c.5141_5144delATTT and p.Tyr1714_Leu1715?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359487(;)
Alt rs80359487(;)
Reference rs80359487(TTAT;TTAT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32913633_32913636delATTT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044566.2, RCV000113386.2, RCV000222425.1,