rs80359209

Orientation

plus

Stabilized

plus

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

Make rs80359209(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32394806

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359209
dbSNP (classic)	rs80359209
ClinGen	rs80359209
ebi	rs80359209
HLI	rs80359209
Exac	rs80359209
Gnomad	rs80359209
Varsome	rs80359209
LitVar	rs80359209
Map	rs80359209
PheGenI	rs80359209
Biobank	rs80359209
1000 genomes	rs80359209
hgdp	rs80359209
ensembl	rs80359209
geneview	rs80359209
scholar	rs80359209
google	rs80359209
pharmgkb	rs80359209
gwascentral	rs80359209
openSNP	rs80359209
23andMe	rs80359209
SNPshot	rs80359209
SNPdbe	rs80359209
MSV3d	rs80359209
GWAS Ctlg	rs80359209

Max Magnitude

6

aka c.9374T>A (p.Leu3125His)

Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

ClinVar
Risk	rs80359209(A;A)
Alt	rs80359209(A;A)
Reference	Rs80359209(T;T)
Significance	Untested
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.32968943T>A
CLNSRC	ClinVar
CLNACC	RCV000045803.2, RCV000114098.1,