rs80358719

Orientation

plus

Stabilized

plus

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

Make rs80358719(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32339288

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358719
dbSNP (classic)	rs80358719
ClinGen	rs80358719
ebi	rs80358719
HLI	rs80358719
Exac	rs80358719
Gnomad	rs80358719
Varsome	rs80358719
LitVar	rs80358719
Map	rs80358719
PheGenI	rs80358719
Biobank	rs80358719
1000 genomes	rs80358719
hgdp	rs80358719
ensembl	rs80358719
geneview	rs80358719
scholar	rs80358719
google	rs80358719
pharmgkb	rs80358719
gwascentral	rs80358719
openSNP	rs80358719
23andMe	rs80358719
SNPshot	rs80358719
SNPdbe	rs80358719
MSV3d	rs80358719
GWAS Ctlg	rs80358719

Max Magnitude

6

rs80358719, also known as K1645X, c.4933A>T and p.Lys1645Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358719(T;T)
Alt	rs80358719(T;T)
Reference	Rs80358719(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32913425A>T
CLNSRC	ClinVar
CLNACC	RCV000044525.2, RCV000113359.2,