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

rs80359707

From SNPedia

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


Make rs80359707(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370410
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359707
ebirs80359707
HLIrs80359707
Exacrs80359707
Varsomers80359707
Maprs80359707
PheGenIrs80359707
hapmaprs80359707
1000 genomesrs80359707
hgdprs80359707
ensemblrs80359707
gopubmedrs80359707
geneviewrs80359707
scholarrs80359707
googlers80359707
pharmgkbrs80359707
gwascentralrs80359707
openSNPrs80359707
23andMers80359707
23andMe allrs80359707
SNP Nexus

SNPshotrs80359707
SNPdbers80359707
MSV3drs80359707
GWAS Ctlgrs80359707
Max Magnitude6
rs80359707, also known as 8568del4, c.8340_8343delTAAC and p.Ala2780_Asn2781?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359707(;)
Alt rs80359707(;)
Reference rs80359707(CTAA;CTAA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32944547_32944550delTAAC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045484.2, RCV000077434.3, RCV000162939.1,