rs80359112

Orientation

plus

Stabilized

plus

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

Make rs80359112(A;A)

Make rs80359112(A;C)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32371040

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359112
dbSNP (classic)	rs80359112
ClinGen	rs80359112
ebi	rs80359112
HLI	rs80359112
Exac	rs80359112
Gnomad	rs80359112
Varsome	rs80359112
LitVar	rs80359112
Map	rs80359112
PheGenI	rs80359112
Biobank	rs80359112
1000 genomes	rs80359112
hgdp	rs80359112
ensembl	rs80359112
geneview	rs80359112
scholar	rs80359112
google	rs80359112
pharmgkb	rs80359112
gwascentral	rs80359112
openSNP	rs80359112
23andMe	rs80359112
SNPshot	rs80359112
SNPdbe	rs80359112
MSV3d	rs80359112
GWAS Ctlg	rs80359112

Max Magnitude

6

rs80359112, also known as Q2858X, c.8572C>T and p.Gln2858Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80359112(A;A) rs80359112(T;T)
Alt	rs80359112(A;A) rs80359112(T;T)
Reference	Rs80359112(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not specified Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32945177C>A; NC_000013.10:g.32945177C>T
CLNSRC	ClinVar
CLNACC	RCV000045560.5, RCV000113961.1, RCV000166603.2, RCV000212278.1, RCV000045561.2, RCV000113962.3,