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rs80358785

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in complete genomics
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer


Make rs80358785(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340000
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358785
ebirs80358785
HLIrs80358785
Exacrs80358785
Varsomers80358785
Maprs80358785
PheGenIrs80358785
hapmaprs80358785
1000 genomesrs80358785
hgdprs80358785
ensemblrs80358785
gopubmedrs80358785
geneviewrs80358785
scholarrs80358785
googlers80358785
pharmgkbrs80358785
gwascentralrs80358785
openSNPrs80358785
23andMers80358785
23andMe allrs80358785
SNP Nexus

SNPshotrs80358785
SNPdbers80358785
MSV3drs80358785
GWAS Ctlgrs80358785
Max Magnitude6
rs80358785, also known as S1882X, c.5645C>A and p.Ser1882Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
OMIM600185
Desc
Variant0031
Relatedalso
ClinVar
Risk rs80358785(A,G;A,G)
Alt rs80358785(A,G;A,G)
Reference rs80358785(C;C)
Significance Other
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Wilms tumor 1 Glioma susceptibility 3 Medulloblastoma Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32914137C>A; NC_000013.10:g.32914137C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000031565.7, RCV000044705.5, RCV000131114.2, RCV000167830.2, RCV000009937.4, RCV000009938.4, RCV000009939.4, RCV000044706.2, RCV000113452.1,