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rs80359734

From SNPedia

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


Make rs80359734(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379757
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359734
ebirs80359734
HLIrs80359734
Exacrs80359734
Varsomers80359734
Maprs80359734
PheGenIrs80359734
hapmaprs80359734
1000 genomesrs80359734
hgdprs80359734
ensemblrs80359734
gopubmedrs80359734
geneviewrs80359734
scholarrs80359734
googlers80359734
pharmgkbrs80359734
gwascentralrs80359734
openSNPrs80359734
23andMers80359734
23andMe allrs80359734
SNP Nexus

SNPshotrs80359734
SNPdbers80359734
MSV3drs80359734
GWAS Ctlgrs80359734
Max Magnitude6
rs80359734, also known as 9189del4, c.8961_8964delGAGT and p.Leu2987_Ser2988?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359734(;)
Alt rs80359734(;)
Reference rs80359734(TGAG;TGAG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32953894_32953897delGAGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045673.2, RCV000077457.3, RCV000215485.1, RCV000220005.1,