rs397507409

Orientation

plus

Stabilized

plus

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

Make rs397507409(T;T)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32376714

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507409
dbSNP (classic)	rs397507409
ClinGen	rs397507409
ebi	rs397507409
HLI	rs397507409
Exac	rs397507409
Gnomad	rs397507409
Varsome	rs397507409
LitVar	rs397507409
Map	rs397507409
PheGenI	rs397507409
Biobank	rs397507409
1000 genomes	rs397507409
hgdp	rs397507409
ensembl	rs397507409
geneview	rs397507409
scholar	rs397507409
google	rs397507409
pharmgkb	rs397507409
gwascentral	rs397507409
openSNP	rs397507409
23andMe	rs397507409
SNPshot	rs397507409
SNPdbe	rs397507409
MSV3d	rs397507409
GWAS Ctlg	rs397507409

Max Magnitude

6

rs397507409, also known as c.8677C>T or p.Gln2893Ter, represents a BRCA2 mutation.

It is reported in ClinVar as pathogenic for breast cancer.

ClinVar
Risk	rs397507409(T;T)
Alt	rs397507409(T;T)
Reference	Rs397507409(C;C)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided
Variation	info
Gene	BRCA2
CLNDBN	Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided
Reversed	0
HGVS	NC_000013.10:g.32950851C>T
CLNSRC	ClinVar
CLNACC	RCV000031760.5, RCV000045600.3, RCV000413575.1,