rs80359308

plus

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

Reference

GRCh38 38.1/141

Chromosome

13

Position

32333291

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359308
dbSNP (classic)	rs80359308
ClinGen	rs80359308
ebi	rs80359308
HLI	rs80359308
Exac	rs80359308
Gnomad	rs80359308
Varsome	rs80359308
LitVar	rs80359308
Map	rs80359308
PheGenI	rs80359308
Biobank	rs80359308
1000 genomes	rs80359308
hgdp	rs80359308
ensembl	rs80359308
geneview	rs80359308
scholar	rs80359308
google	rs80359308
pharmgkb	rs80359308
gwascentral	rs80359308
openSNP	rs80359308
23andMe	rs80359308
SNPshot	rs80359308
SNPdbe	rs80359308
MSV3d	rs80359308
GWAS Ctlg	rs80359308

Max Magnitude

6

rs80359308, also known as 2041insA, c.1813_1814insA and p.Ile605?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80359308(A;A) rs80359308(C;C)
Alt	Rs80359308(A;A) rs80359308(C;C)
Reference	Rs80359308(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32907428dupA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000031343.14, RCV000043897.7, RCV000131453.3, RCV000160269.3,