rs397507327

Orientation

plus

Stabilized

plus

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

Make rs397507327(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338598

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507327
dbSNP (classic)	rs397507327
ClinGen	rs397507327
ebi	rs397507327
HLI	rs397507327
Exac	rs397507327
Gnomad	rs397507327
Varsome	rs397507327
LitVar	rs397507327
Map	rs397507327
PheGenI	rs397507327
Biobank	rs397507327
1000 genomes	rs397507327
hgdp	rs397507327
ensembl	rs397507327
geneview	rs397507327
scholar	rs397507327
google	rs397507327
pharmgkb	rs397507327
gwascentral	rs397507327
openSNP	rs397507327
23andMe	rs397507327
SNPshot	rs397507327
SNPdbe	rs397507327
MSV3d	rs397507327
GWAS Ctlg	rs397507327

Max Magnitude

6

aka c.4243G>T (p.Glu1415Ter and E1415X); but note also presence of c.4243G>A (p.Glu1415Lys and E1415K)

ClinVar
Risk	rs397507327(A;A) rs397507327(T;T)
Alt	rs397507327(A;A) rs397507327(T;T)
Reference	Rs397507327(G;G)
Significance	Pathogenic
Disease	Breast-ovarian cancer Familial cancer of breast not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Familial cancer of breast not provided
Reversed	0
HGVS	NC_000013.10:g.32912735G>T
CLNSRC	ClinVar
CLNACC	RCV000031471.5, RCV000044376.2, RCV000219707.1,