rs80357654

minus

Geno	Mag	Summary
(-;CA)	6	BRCA1 variant considered pathogenic for breast cancer
(CA;CA)	0	Normal

Make rs80357654(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093320

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357654
dbSNP (classic)	rs80357654
ClinGen	rs80357654
ebi	rs80357654
HLI	rs80357654
Exac	rs80357654
Gnomad	rs80357654
Varsome	rs80357654
LitVar	rs80357654
Map	rs80357654
PheGenI	rs80357654
Biobank	rs80357654
1000 genomes	rs80357654
hgdp	rs80357654
ensembl	rs80357654
geneview	rs80357654
scholar	rs80357654
google	rs80357654
pharmgkb	rs80357654
gwascentral	rs80357654
openSNP	rs80357654
23andMe	rs80357654
SNPshot	rs80357654
SNPdbe	rs80357654
MSV3d	rs80357654
GWAS Ctlg	rs80357654

Max Magnitude

6

rs80357654, also known as 2329delCA, c.2210_2211delCA and p.Thr737Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357654(-;-)
Alt	rs80357654(-;-)
Reference	Rs80357654(CA;CA)
Significance	Pathogenic
Disease	Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	BRCA1
CLNDBN	Breast-ovarian cancer, familial 1 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41245337_41245338delTG
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000031037.6, RCV000047759.3, RCV000131875.2, RCV000236097.1,