rs80359035

Orientation

plus

Stabilized

plus

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

Make rs80359035(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32363211

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs80359035
dbSNP (classic)	rs80359035
ClinGen	rs80359035
ebi	rs80359035
HLI	rs80359035
Exac	rs80359035
Gnomad	rs80359035
Varsome	rs80359035
LitVar	rs80359035
Map	rs80359035
PheGenI	rs80359035
Biobank	rs80359035
1000 genomes	rs80359035
hgdp	rs80359035
ensembl	rs80359035
geneview	rs80359035
scholar	rs80359035
google	rs80359035
pharmgkb	rs80359035
gwascentral	rs80359035
openSNP	rs80359035
23andMe	rs80359035
SNPshot	rs80359035
SNPdbe	rs80359035
MSV3d	rs80359035
GWAS Ctlg	rs80359035

Max Magnitude

6

aka c.8009C>T (p.Ser2670Leu), as well as c.8009C>A (p.Ser2670Ter) and c.8009C>G (p.Ser2670Trp)

c.8009C>T and c.8009C>A are both classified as BRCA2 gene pathogenic mutations for breast cancer based on likelihood cited in ClinVar and in [PMID 29394989]

ClinVar
Risk	rs80359035(A;A) rs80359035(T;T)
Alt	rs80359035(A;A) rs80359035(T;T)
Reference	Rs80359035(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1
Reversed	0
HGVS	NC_000013.10:g.32937348C>A; NC_000013.10:g.32937348C>T
CLNSRC	ClinVar Ambry Genetics
CLNACC	RCV000045384.2, RCV000239017.2, RCV000045385.5, RCV000077423.3, RCV000131082.3, RCV000212267.2, RCV000409052.1,