rs80359070

Orientation

plus

Stabilized

plus

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

Make rs80359070(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363421

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359070
ClinGen	rs80359070
ebi	rs80359070
HLI	rs80359070
Exac	rs80359070
Varsome	rs80359070
Map	rs80359070
PheGenI	rs80359070
hapmap	rs80359070
1000 genomes	rs80359070
hgdp	rs80359070
ensembl	rs80359070
gopubmed	rs80359070
geneview	rs80359070
scholar	rs80359070
google	rs80359070
pharmgkb	rs80359070
gwascentral	rs80359070
openSNP	rs80359070
23andMe	rs80359070
23andMe all	rs80359070
SNP Nexus
SNPshot	rs80359070
SNPdbe	rs80359070
MSV3d	rs80359070
GWAS Ctlg	rs80359070

Max Magnitude

6

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.

OMIM	600185
Desc
Variant	0028
Related	also

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, RCV000113889.2, RCV000236578.1,