rs80357539

minus

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

Make rs80357539(-;-)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43093330

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357539
dbSNP (classic)	rs80357539
ClinGen	rs80357539
ebi	rs80357539
HLI	rs80357539
Exac	rs80357539
Gnomad	rs80357539
Varsome	rs80357539
LitVar	rs80357539
Map	rs80357539
PheGenI	rs80357539
Biobank	rs80357539
1000 genomes	rs80357539
hgdp	rs80357539
ensembl	rs80357539
geneview	rs80357539
scholar	rs80357539
google	rs80357539
pharmgkb	rs80357539
gwascentral	rs80357539
openSNP	rs80357539
23andMe	rs80357539
SNPshot	rs80357539
SNPdbe	rs80357539
MSV3d	rs80357539
GWAS Ctlg	rs80357539

Status

Merged into rs80357507

Max Magnitude

6

rs80357539, also known as 2316del5, c.2197_2201delGAGAA and p.Glu733_Lys734?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357539(GAGAA;GAGAA)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer not provided
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1 not provided
Reversed	1
HGVS	NC_000017.10:g.41245347_41245351delTTCTC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047754.3, RCV000111789.5, RCV000254636.1,