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rs80359405

From SNPedia

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


Make rs80359405(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338202
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359405
ebirs80359405
HLIrs80359405
Exacrs80359405
Varsomers80359405
Maprs80359405
PheGenIrs80359405
hapmaprs80359405
1000 genomesrs80359405
hgdprs80359405
ensemblrs80359405
gopubmedrs80359405
geneviewrs80359405
scholarrs80359405
googlers80359405
pharmgkbrs80359405
gwascentralrs80359405
openSNPrs80359405
23andMers80359405
23andMe allrs80359405
SNP Nexus

SNPshotrs80359405
SNPdbers80359405
MSV3drs80359405
GWAS Ctlgrs80359405
Max Magnitude6
rs80359405, also known as 4075delGT, c.3847_3848delGT and p.Val1283Lysfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359405(;)
Alt rs80359405(;)
Reference rs80359405(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32912339_32912340delGT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031440.7, RCV000044280.7, RCV000131095.2, RCV000160281.1,