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rs80359631

From SNPedia

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


Make rs80359631(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32346879
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359631
ebirs80359631
HLIrs80359631
Exacrs80359631
Varsomers80359631
Maprs80359631
PheGenIrs80359631
hapmaprs80359631
1000 genomesrs80359631
hgdprs80359631
ensemblrs80359631
gopubmedrs80359631
geneviewrs80359631
scholarrs80359631
googlers80359631
pharmgkbrs80359631
gwascentralrs80359631
openSNPrs80359631
23andMers80359631
23andMe allrs80359631
SNP Nexus

SNPshotrs80359631
SNPdbers80359631
MSV3drs80359631
GWAS Ctlgrs80359631
Max Magnitude6
rs80359631, also known as 7218del5, c.6990_6994delTACCT and p.Ile2330_Cys2332?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359631(;)
Alt rs80359631(;)
Reference rs80359631(TTACC;TTACC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32921016_32921020delTACCT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045103.2, RCV000113681.1,