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rs80359641

From SNPedia

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


Make rs80359641(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32355061
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359641
ebirs80359641
HLIrs80359641
Exacrs80359641
Varsomers80359641
Maprs80359641
PheGenIrs80359641
hapmaprs80359641
1000 genomesrs80359641
hgdprs80359641
ensemblrs80359641
gopubmedrs80359641
geneviewrs80359641
scholarrs80359641
googlers80359641
pharmgkbrs80359641
gwascentralrs80359641
openSNPrs80359641
23andMers80359641
23andMe allrs80359641
SNP Nexus

SNPshotrs80359641
SNPdbers80359641
MSV3drs80359641
GWAS Ctlgrs80359641
Max Magnitude6
rs80359641, also known as 7436del4, c.7208_7211delCCAA and p.Thr2403_Lys2404?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359641(;)
Alt rs80359641(;)
Reference rs80359641(ACCA;ACCA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32929198_32929201delCCAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045164.2, RCV000077399.4, RCV000215912.1,