rs80358695

Orientation

plus

Stabilized

plus

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

Make rs80358695(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339003

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358695
dbSNP (classic)	rs80358695
ClinGen	rs80358695
ebi	rs80358695
HLI	rs80358695
Exac	rs80358695
Gnomad	rs80358695
Varsome	rs80358695
LitVar	rs80358695
Map	rs80358695
PheGenI	rs80358695
Biobank	rs80358695
1000 genomes	rs80358695
hgdp	rs80358695
ensembl	rs80358695
geneview	rs80358695
scholar	rs80358695
google	rs80358695
pharmgkb	rs80358695
gwascentral	rs80358695
openSNP	rs80358695
23andMe	rs80358695
SNPshot	rs80358695
SNPdbe	rs80358695
MSV3d	rs80358695
GWAS Ctlg	rs80358695

Max Magnitude

6

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.

OMIM	600185
Desc
Variant	0029
Related	also

ClinVar
Risk	rs80358695(C;C) rs80358695(T;T)
Alt	rs80358695(C;C) rs80358695(T;T)
Reference	Rs80358695(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Fanconi anemia Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Fanconi anemia, complementation group D1 Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32913140G>C; NC_000013.10:g.32913140G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210981.1, RCV000009935.3, RCV000044460.3, RCV000113326.3,