rs80359315

plus

Geno	Mag	Summary
(-;C)	6	Possibly miscall in Ancestry v2d data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(C;C)	0	common in clinvar

Make rs80359315(-;-)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333367

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359315
dbSNP (classic)	rs80359315
ClinGen	rs80359315
ebi	rs80359315
HLI	rs80359315
Exac	rs80359315
Gnomad	rs80359315
Varsome	rs80359315
LitVar	rs80359315
Map	rs80359315
PheGenI	rs80359315
Biobank	rs80359315
1000 genomes	rs80359315
hgdp	rs80359315
ensembl	rs80359315
geneview	rs80359315
scholar	rs80359315
google	rs80359315
pharmgkb	rs80359315
gwascentral	rs80359315
openSNP	rs80359315
23andMe	rs80359315
SNPshot	rs80359315
SNPdbe	rs80359315
MSV3d	rs80359315
GWAS Ctlg	rs80359315

Max Magnitude

6

rs80359315, also known as 2117delC, c.1889_1889delC and p.Thr630Asnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359315(-;-)
Alt	rs80359315(-;-)
Reference	Rs80359315(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907504delC
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000043918.3, RCV000077271.5, RCV000221409.1, RCV000478099.1,