rs397509213

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs397509213(C;G)

Make rs397509213(G;G)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43067698

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509213
dbSNP (classic)	rs397509213
ClinGen	rs397509213
ebi	rs397509213
HLI	rs397509213
Exac	rs397509213
Gnomad	rs397509213
Varsome	rs397509213
LitVar	rs397509213
Map	rs397509213
PheGenI	rs397509213
Biobank	rs397509213
1000 genomes	rs397509213
hgdp	rs397509213
ensembl	rs397509213
geneview	rs397509213
scholar	rs397509213
google	rs397509213
pharmgkb	rs397509213
gwascentral	rs397509213
openSNP	rs397509213
23andMe	rs397509213
SNPshot	rs397509213
SNPdbe	rs397509213
MSV3d	rs397509213
GWAS Ctlg	rs397509213

Max Magnitude

0

aka c.4987-3C>G

Listed in ClinVar as a BRCA1 variant of uncertain significance. There is a 2012 publication that concludes it is pathogenic.[PMID 22113256]

ClinVar
Risk	rs397509213(G;G)
Alt	rs397509213(G;G)
Reference	Rs397509213(C;C)
Significance	Untested
Disease	Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation	info
Gene	BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed	1
HGVS	NC_000017.10:g.41219715G>C
CLNSRC	Ambry Genetics ClinVar
CLNACC	RCV000048727.3, RCV000129699.3,