rs397507630

plus

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

Make rs397507630(A;A)

Reference

GRCh38 38.1/141

Chromosome

13

Position

32319255

Gene

BRCA2

is a	snp
is	mentioned by
dbSNP	rs397507630
dbSNP (classic)	rs397507630
ClinGen	rs397507630
ebi	rs397507630
HLI	rs397507630
Exac	rs397507630
Gnomad	rs397507630
Varsome	rs397507630
LitVar	rs397507630
Map	rs397507630
PheGenI	rs397507630
Biobank	rs397507630
1000 genomes	rs397507630
hgdp	rs397507630
ensembl	rs397507630
geneview	rs397507630
scholar	rs397507630
google	rs397507630
pharmgkb	rs397507630
gwascentral	rs397507630
openSNP	rs397507630
23andMe	rs397507630
SNPshot	rs397507630
SNPdbe	rs397507630
MSV3d	rs397507630
GWAS Ctlg	rs397507630

Max Magnitude

6

aka c.246dupA (p.Glu83fs) as well as c.246delA (p.Glu83fs); both are considered pathogenic for breast cancer in ClinVar

Direct-to-consumer companies may report this differently; both (I;I) and (D;D) could be considered the common/normal genotype, since both a deletion and a duplication are known for this SNP. However, the (D;I) designation should represent the mutation in either case.

ClinVar
Risk	rs397507630(A;A)
Alt	rs397507630(A;A)
Reference	Rs397507630(-;-)
Significance	Untested
Disease	Familial cancer of breast
Variation	info
Gene	BRCA2
CLNDBN	Familial cancer of breast
Reversed	0
HGVS	NC_000013.10:g.32893392dupA
CLNSRC	ClinVar
CLNACC	RCV000044002.2,