rs397507805

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;T)	6	Likely miscall in Ancestry v2d data; otherwise, BRCA2 variant considered pathogenic for breast cancer
(G;T)	6	BRCA2 variant considered pathogenic for breast cancer
(T;T)	0	common in clinvar

Make rs397507805(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32340144

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507805
dbSNP (classic)	rs397507805
ClinGen	rs397507805
ebi	rs397507805
HLI	rs397507805
Exac	rs397507805
Gnomad	rs397507805
Varsome	rs397507805
LitVar	rs397507805
Map	rs397507805
PheGenI	rs397507805
Biobank	rs397507805
1000 genomes	rs397507805
hgdp	rs397507805
ensembl	rs397507805
geneview	rs397507805
scholar	rs397507805
google	rs397507805
pharmgkb	rs397507805
gwascentral	rs397507805
openSNP	rs397507805
23andMe	rs397507805
SNPshot	rs397507805
SNPdbe	rs397507805
MSV3d	rs397507805
GWAS Ctlg	rs397507805

Max Magnitude

6

aka c.5789T>A (p.Leu1930Ter, L1930* or L1930X)

ClinVar
Risk	rs397507805(A;A)
Alt	rs397507805(A;A)
Reference	Rs397507805(T;T)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed	0
HGVS	NC_000013.10:g.32914281T>A
CLNSRC	ClinVar
CLNACC	RCV000044756.2, RCV000257112.2,