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rs80359070

From SNPedia

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


Make rs80359070(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363421
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359070
ebirs80359070
HLIrs80359070
Exacrs80359070
Varsomers80359070
Maprs80359070
PheGenIrs80359070
hapmaprs80359070
1000 genomesrs80359070
hgdprs80359070
ensemblrs80359070
gopubmedrs80359070
geneviewrs80359070
scholarrs80359070
googlers80359070
pharmgkbrs80359070
gwascentralrs80359070
openSNPrs80359070
23andMers80359070
23andMe allrs80359070
SNP Nexus

SNPshotrs80359070
SNPdbers80359070
MSV3drs80359070
GWAS Ctlgrs80359070
Max Magnitude6
rs80359070, also known as L2740X, c.8219T>A and p.Leu2740Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

Note also the association with Fanconi anemia complementation group D, when in compound heterozygous state.

OMIM600185
Desc
Variant0028
Relatedalso
ClinVar
Risk rs80359070(A;A)
Alt rs80359070(A;A)
Reference rs80359070(T;T)
Significance Pathogenic
Disease Fanconi anemia Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Fanconi anemia, complementation group D1 Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32937558T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009934.6, RCV000045454.2, RCV000113889.1, RCV000236578.1,