rs80359729

plus

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

Make rs80359729(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379351

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359729
dbSNP (classic)	rs80359729
ClinGen	rs80359729
ebi	rs80359729
HLI	rs80359729
Exac	rs80359729
Gnomad	rs80359729
Varsome	rs80359729
LitVar	rs80359729
Map	rs80359729
PheGenI	rs80359729
Biobank	rs80359729
1000 genomes	rs80359729
hgdp	rs80359729
ensembl	rs80359729
geneview	rs80359729
scholar	rs80359729
google	rs80359729
pharmgkb	rs80359729
gwascentral	rs80359729
openSNP	rs80359729
23andMe	rs80359729
SNPshot	rs80359729
SNPdbe	rs80359729
MSV3d	rs80359729
GWAS Ctlg	rs80359729

Max Magnitude

6

rs80359729, also known as 9017delA, c.8789_8789delA and p.Asn2930Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359729(-;-)
Alt	rs80359729(-;-)
Reference	Rs80359729(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.32953488delA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045629.2, RCV000114000.2,