rs397509012

minus

Geno	Mag	Summary
(-;A)	6	BRCA1 variant considered pathogenic for breast cancer
(A;A)	0	common in clinvar

Make rs397509012(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092726

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs397509012
dbSNP (classic)	rs397509012
ClinGen	rs397509012
ebi	rs397509012
HLI	rs397509012
Exac	rs397509012
Gnomad	rs397509012
Varsome	rs397509012
LitVar	rs397509012
Map	rs397509012
PheGenI	rs397509012
Biobank	rs397509012
1000 genomes	rs397509012
hgdp	rs397509012
ensembl	rs397509012
geneview	rs397509012
scholar	rs397509012
google	rs397509012
pharmgkb	rs397509012
gwascentral	rs397509012
openSNP	rs397509012
23andMe	rs397509012
SNPshot	rs397509012
SNPdbe	rs397509012
MSV3d	rs397509012
GWAS Ctlg	rs397509012

Max Magnitude

6

rs397509012, also known as 2924delA, c.2805_2806delA and p.Asp936Ilefs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs397509012(-;-)
Alt	rs397509012(-;-)
Reference	Rs397509012(A;A)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244743delT
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047974.2, RCV000111942.2,