rs80359747

plus

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

Make rs80359747(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32379894

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359747
dbSNP (classic)	rs80359747
ClinGen	rs80359747
ebi	rs80359747
HLI	rs80359747
Exac	rs80359747
Gnomad	rs80359747
Varsome	rs80359747
LitVar	rs80359747
Map	rs80359747
PheGenI	rs80359747
Biobank	rs80359747
1000 genomes	rs80359747
hgdp	rs80359747
ensembl	rs80359747
geneview	rs80359747
scholar	rs80359747
google	rs80359747
pharmgkb	rs80359747
gwascentral	rs80359747
openSNP	rs80359747
23andMe	rs80359747
SNPshot	rs80359747
SNPdbe	rs80359747
MSV3d	rs80359747
GWAS Ctlg	rs80359747

Max Magnitude

6

rs80359747, also known as 9326insA, c.9098_9099insA and p.Thr3033?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

23andMe name for the insA variant: i5010570 apparently; however, note our predicted >10x overcall (false positive) rate for this iSNP.

ClinVar
Risk	rs80359747(A;A) Rs80359747(C;C)
Alt	rs80359747(A;A) Rs80359747(C;C)
Reference	Rs80359747(-;-)
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.32954031_32954032insA; NC_000013.10:g.32954031dupC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000045712.2, RCV000114044.3, RCV000114045.2,