rs80359753

plus

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

Make rs80359753(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32394701

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359753
dbSNP (classic)	rs80359753
ClinGen	rs80359753
ebi	rs80359753
HLI	rs80359753
Exac	rs80359753
Gnomad	rs80359753
Varsome	rs80359753
LitVar	rs80359753
Map	rs80359753
PheGenI	rs80359753
Biobank	rs80359753
1000 genomes	rs80359753
hgdp	rs80359753
ensembl	rs80359753
geneview	rs80359753
scholar	rs80359753
google	rs80359753
pharmgkb	rs80359753
gwascentral	rs80359753
openSNP	rs80359753
23andMe	rs80359753
SNPshot	rs80359753
SNPdbe	rs80359753
MSV3d	rs80359753
GWAS Ctlg	rs80359753

Max Magnitude

6

rs80359753, also known as 9497insT, c.9269_9270insT and p.Phe3090?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359753(T;T)
Alt	rs80359753(T;T)
Reference	Rs80359753(-;-)
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.32968838dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045771.2, RCV000114084.3,