rs397507732

plus

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

Make rs397507732(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32338948

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507732
dbSNP (classic)	rs397507732
ClinGen	rs397507732
ebi	rs397507732
HLI	rs397507732
Exac	rs397507732
Gnomad	rs397507732
Varsome	rs397507732
LitVar	rs397507732
Map	rs397507732
PheGenI	rs397507732
Biobank	rs397507732
1000 genomes	rs397507732
hgdp	rs397507732
ensembl	rs397507732
geneview	rs397507732
scholar	rs397507732
google	rs397507732
pharmgkb	rs397507732
gwascentral	rs397507732
openSNP	rs397507732
23andMe	rs397507732
SNPshot	rs397507732
SNPdbe	rs397507732
MSV3d	rs397507732
GWAS Ctlg	rs397507732

Max Magnitude

6

aka c.4593dupA (p.Val1532Serfs); this is equivalent to the c.4587_4588insA variant which is rs745456776. These "insA" variants are the same but (until merged in dbSNP perhaps) come about from whether the insertion is considered to occur at the beginning or end of a run of A's.

23andMe name: i5010511

ClinVar
Risk	rs397507732(A;A)
Alt	rs397507732(A;A)
Reference	Rs397507732(-;-)
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.32913085dupA
CLNSRC	ClinVar
CLNACC	RCV000044450.2, RCV000077731.4,