rs80358815

Orientation

plus

Stabilized

plus

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

Make rs80358815(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340219

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358815
dbSNP (classic)	rs80358815
ClinGen	rs80358815
ebi	rs80358815
HLI	rs80358815
Exac	rs80358815
Gnomad	rs80358815
Varsome	rs80358815
LitVar	rs80358815
Map	rs80358815
PheGenI	rs80358815
Biobank	rs80358815
1000 genomes	rs80358815
hgdp	rs80358815
ensembl	rs80358815
geneview	rs80358815
scholar	rs80358815
google	rs80358815
pharmgkb	rs80358815
gwascentral	rs80358815
openSNP	rs80358815
23andMe	rs80358815
SNPshot	rs80358815
SNPdbe	rs80358815
MSV3d	rs80358815
GWAS Ctlg	rs80358815

Max Magnitude

6

rs80358815, also known as S1955X, c.5864C>A and p.Ser1955Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358815(A;A) rs80358815(G;G) rs80358815(T;T)
Alt	rs80358815(A;A) rs80358815(G;G) rs80358815(T;T)
Reference	Rs80358815(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided 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 provided Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32914356C>A; NC_000013.10:g.32914356C>G; NC_000013.10:g.32914356C>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000044777.4, RCV000077364.7, RCV000162927.2, RCV000221022.2, RCV000044778.2, RCV000131666.2, RCV000241225.1, RCV000476307.1,