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rs80358695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358695(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339003
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358695
ebirs80358695
HLIrs80358695
Exacrs80358695
Varsomers80358695
Maprs80358695
PheGenIrs80358695
hapmaprs80358695
1000 genomesrs80358695
hgdprs80358695
ensemblrs80358695
gopubmedrs80358695
geneviewrs80358695
scholarrs80358695
googlers80358695
pharmgkbrs80358695
gwascentralrs80358695
openSNPrs80358695
23andMers80358695
23andMe allrs80358695
SNP Nexus

SNPshotrs80358695
SNPdbers80358695
MSV3drs80358695
GWAS Ctlgrs80358695
Max Magnitude6
rs80358695, also known as E1550X, c.4648G>T and p.Glu1550Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

The minor allele for this variant has also been found in a BRCA2 compound heterozygote, associated with Fanconi anemia complementation group D1.

OMIM600185
Desc
Variant0029
Relatedalso
ClinVar
Risk rs80358695(C,T;C,T)
Alt rs80358695(C,T;C,T)
Reference rs80358695(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Fanconi anemia Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Fanconi anemia, complementation group D1 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913140G>C; NC_000013.10:g.32913140G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210981.1, RCV000009935.3, RCV000044460.2, RCV000113326.1,