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rs80359328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359328(-;-)
Make rs80359328(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336685
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359328
ebirs80359328
HLIrs80359328
Exacrs80359328
Varsomers80359328
Maprs80359328
PheGenIrs80359328
hapmaprs80359328
1000 genomesrs80359328
hgdprs80359328
ensemblrs80359328
gopubmedrs80359328
geneviewrs80359328
scholarrs80359328
googlers80359328
pharmgkbrs80359328
gwascentralrs80359328
openSNPrs80359328
23andMers80359328
23andMe allrs80359328
SNP Nexus

SNPshotrs80359328
SNPdbers80359328
MSV3drs80359328
GWAS Ctlgrs80359328
Max Magnitude6
rs80359328, also known as 2558insA, c.2330_2331insA and p.Asp777?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359328(A;A)
Alt rs80359328(A;A)
Reference rs80359328(;)
Significance Pathogenic
Disease Malignant tumor of prostate Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Malignant tumor of prostate Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32910822dupA
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009928.2, RCV000077683.3, RCV000160270.1, RCV000163933.1, RCV000206474.1,