rs397507617

Orientation

plus

Stabilized

plus

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

Make rs397507617(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319205

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507617
dbSNP (classic)	rs397507617
ClinGen	rs397507617
ebi	rs397507617
HLI	rs397507617
Exac	rs397507617
Gnomad	rs397507617
Varsome	rs397507617
LitVar	rs397507617
Map	rs397507617
PheGenI	rs397507617
Biobank	rs397507617
1000 genomes	rs397507617
hgdp	rs397507617
ensembl	rs397507617
geneview	rs397507617
scholar	rs397507617
google	rs397507617
pharmgkb	rs397507617
gwascentral	rs397507617
openSNP	rs397507617
23andMe	rs397507617
SNPshot	rs397507617
SNPdbe	rs397507617
MSV3d	rs397507617
GWAS Ctlg	rs397507617

Max Magnitude

6

aka c.196C>T (p.Gln66Ter)

ClinVar
Risk	rs397507617(T;T)
Alt	rs397507617(T;T)
Reference	Rs397507617(C;C)
Significance	Pathogenic
Disease	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed	0
HGVS	NC_000013.10:g.32893342C>T
CLNSRC	ClinVar
CLNACC	RCV000043932.2, RCV000164594.1, RCV000168531.4, RCV000257913.2,