rs80357696

minus

Geno	Mag	Summary
(-;GTGTCCCATCT)	6	BRCA1 variant considered pathogenic for breast cancer
(-;TGTCCCATCTG)	6	BRCA1 variant considered pathogenic for breast cancer
(GTGTCCCATCT;GTGTCCCATCT)	0	common/normal
(TGTCCCATCTG;TGTCCCATCTG)	0	common in clinvar

Make rs80357696(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43124018

Gene	BRCA1, NBR2

is a	snp
is	mentioned by
dbSNP	rs80357696
dbSNP (classic)	rs80357696
ClinGen	rs80357696
ebi	rs80357696
HLI	rs80357696
Exac	rs80357696
Gnomad	rs80357696
Varsome	rs80357696
LitVar	rs80357696
Map	rs80357696
PheGenI	rs80357696
Biobank	rs80357696
1000 genomes	rs80357696
hgdp	rs80357696
ensembl	rs80357696
geneview	rs80357696
scholar	rs80357696
google	rs80357696
pharmgkb	rs80357696
gwascentral	rs80357696
openSNP	rs80357696
23andMe	rs80357696
SNPshot	rs80357696
SNPdbe	rs80357696
MSV3d	rs80357696
GWAS Ctlg	rs80357696

Merged from

Rs80359877

Max Magnitude

6

rs80357696, also known as 188del11, c.69_79delGTGTCCCATCT and p.Glu23_Cys27?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	Rs80357696(TGTCCCATCTG;TGTCCCATCTG) rs80357696(-;-)
Alt	Rs80357696(TGTCCCATCTG;TGTCCCATCTG) rs80357696(-;-)
Reference	Rs80357696(GTGTCCCATCT;GTGTCCCATCT)
Significance	Pathogenic
Disease	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	NBR2 BRCA1
CLNDBN	Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided
Reversed	1
HGVS	NC_000017.10:g.41276034_41276044delCAGATGGGACA
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000049106.3, RCV000111682.4, RCV000131391.3, RCV000486060.1,