rs80358824

Orientation

plus

Stabilized

plus

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

Make rs80358824(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340264

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80358824
dbSNP (classic)	rs80358824
ClinGen	rs80358824
ebi	rs80358824
HLI	rs80358824
Exac	rs80358824
Gnomad	rs80358824
Varsome	rs80358824
LitVar	rs80358824
Map	rs80358824
PheGenI	rs80358824
Biobank	rs80358824
1000 genomes	rs80358824
hgdp	rs80358824
ensembl	rs80358824
geneview	rs80358824
scholar	rs80358824
google	rs80358824
pharmgkb	rs80358824
gwascentral	rs80358824
openSNP	rs80358824
23andMe	rs80358824
23andMe all	rs80358824
SNPshot	rs80358824
SNPdbe	rs80358824
MSV3d	rs80358824
GWAS Ctlg	rs80358824

Max Magnitude

6

rs80358824, also known as S1970X, c.5909C>A and p.Ser1970Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80358824(A;A) rs80358824(T;T)
Alt	rs80358824(A;A) rs80358824(T;T)
Reference	Rs80358824(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32914401C>A; NC_000013.10:g.32914401C>T
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000031588.7, RCV000131108.2, RCV000255943.1, RCV000257911.3, RCV000031589.3, RCV000228606.2,