rs80359542

plus

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

Make rs80359542(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340191

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359542
dbSNP (classic)	rs80359542
ClinGen	rs80359542
ebi	rs80359542
HLI	rs80359542
Exac	rs80359542
Gnomad	rs80359542
Varsome	rs80359542
LitVar	rs80359542
Map	rs80359542
PheGenI	rs80359542
Biobank	rs80359542
1000 genomes	rs80359542
hgdp	rs80359542
ensembl	rs80359542
geneview	rs80359542
scholar	rs80359542
google	rs80359542
pharmgkb	rs80359542
gwascentral	rs80359542
openSNP	rs80359542
23andMe	rs80359542
SNPshot	rs80359542
SNPdbe	rs80359542
MSV3d	rs80359542
GWAS Ctlg	rs80359542

Max Magnitude

6

rs80359542, also known as 6064insA, c.5836_5837insA and p.Ser1946?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359542(A;A)
Alt	rs80359542(A;A)
Reference	Rs80359542(-;-)
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.32914328_32914329insA
CLNSRC	Breast Cancer Information Core (BRCA2)
CLNACC	RCV000044771.2, RCV000113491.2,