rs80359548

plus

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

Make rs80359548(T;T)

Reference

GRCh38 38.1/142

Chromosome

13

Position

32340285

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359548
dbSNP (classic)	rs80359548
ClinGen	rs80359548
ebi	rs80359548
HLI	rs80359548
Exac	rs80359548
Gnomad	rs80359548
Varsome	rs80359548
LitVar	rs80359548
Map	rs80359548
PheGenI	rs80359548
Biobank	rs80359548
1000 genomes	rs80359548
hgdp	rs80359548
ensembl	rs80359548
geneview	rs80359548
scholar	rs80359548
google	rs80359548
pharmgkb	rs80359548
gwascentral	rs80359548
openSNP	rs80359548
23andMe	rs80359548
SNPshot	rs80359548
SNPdbe	rs80359548
MSV3d	rs80359548
GWAS Ctlg	rs80359548

Merged from

Rs606231403, Rs786201727

Max Magnitude

6

rs80359548, also known as 6158insT, c.5930_5931insT and p.Ile1977?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359548(T;T)
Alt	rs80359548(T;T)
Reference	Rs80359548(-;-)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000013.10:g.32914426dupT
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000113505.3, RCV000164167.1,