rs80359458

plus

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

Make rs80359458(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338909

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359458
dbSNP (classic)	rs80359458
ClinGen	rs80359458
ebi	rs80359458
HLI	rs80359458
Exac	rs80359458
Gnomad	rs80359458
Varsome	rs80359458
LitVar	rs80359458
Map	rs80359458
PheGenI	rs80359458
Biobank	rs80359458
1000 genomes	rs80359458
hgdp	rs80359458
ensembl	rs80359458
geneview	rs80359458
scholar	rs80359458
google	rs80359458
pharmgkb	rs80359458
gwascentral	rs80359458
openSNP	rs80359458
23andMe	rs80359458
SNPshot	rs80359458
SNPdbe	rs80359458
MSV3d	rs80359458
GWAS Ctlg	rs80359458

Max Magnitude

6

rs80359458, also known as 4782delA, c.4554_4554delA and p.Glu1518Aspfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359458(-;-)
Alt	rs80359458(-;-)
Reference	Rs80359458(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.32913046delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044439.2, RCV000113319.3,