rs80358407

Orientation

plus

Stabilized

plus

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

Make rs80358407(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32332581

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358407
dbSNP (classic)	rs80358407
ClinGen	rs80358407
ebi	rs80358407
HLI	rs80358407
Exac	rs80358407
Gnomad	rs80358407
Varsome	rs80358407
LitVar	rs80358407
Map	rs80358407
PheGenI	rs80358407
Biobank	rs80358407
1000 genomes	rs80358407
hgdp	rs80358407
ensembl	rs80358407
geneview	rs80358407
scholar	rs80358407
google	rs80358407
pharmgkb	rs80358407
gwascentral	rs80358407
openSNP	rs80358407
23andMe	rs80358407
SNPshot	rs80358407
SNPdbe	rs80358407
MSV3d	rs80358407
GWAS Ctlg	rs80358407

Max Magnitude

6

rs80358407, also known as S368X, c.1103C>A and p.Ser368Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358407(A;A)
Alt	rs80358407(A;A)
Reference	Rs80358407(C;C)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32906718C>A
CLNSRC	ClinVar
CLNACC	RCV000043738.5, RCV000112879.3, RCV000222511.1, RCV000258963.1,