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rs80359555

From SNPedia

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


Make rs80359555(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340423
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359555
ebirs80359555
HLIrs80359555
Exacrs80359555
Varsomers80359555
Maprs80359555
PheGenIrs80359555
hapmaprs80359555
1000 genomesrs80359555
hgdprs80359555
ensemblrs80359555
gopubmedrs80359555
geneviewrs80359555
scholarrs80359555
googlers80359555
pharmgkbrs80359555
gwascentralrs80359555
openSNPrs80359555
23andMers80359555
23andMe allrs80359555
SNP Nexus

SNPshotrs80359555
SNPdbers80359555
MSV3drs80359555
GWAS Ctlgrs80359555
Max Magnitude6
rs80359555, also known as 6296del5, c.6068_6072delACCAG and p.Asp2023_Gln2024?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359555(;)
Alt rs80359555(;)
Reference rs80359555(CAGAC;CAGAC)
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.32914560_32914564delACCAG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044831.3, RCV000113523.1, RCV000162928.1,