rs80357910

minus

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

Make rs80357910(-;-)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092042

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357910
dbSNP (classic)	rs80357910
ClinGen	rs80357910
ebi	rs80357910
HLI	rs80357910
Exac	rs80357910
Gnomad	rs80357910
Varsome	rs80357910
LitVar	rs80357910
Map	rs80357910
PheGenI	rs80357910
Biobank	rs80357910
1000 genomes	rs80357910
hgdp	rs80357910
ensembl	rs80357910
geneview	rs80357910
scholar	rs80357910
google	rs80357910
pharmgkb	rs80357910
gwascentral	rs80357910
openSNP	rs80357910
23andMe	rs80357910
SNPshot	rs80357910
SNPdbe	rs80357910
MSV3d	rs80357910
GWAS Ctlg	rs80357910

Status

Merged into rs80357877

Max Magnitude

6

rs80357910, also known as 3598del11, c.3479_3489delAGGAAGATACT and p.Lys1160_Thr1163?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk
Alt
Reference	Rs80357910(GAAGATACTAG;GAAGATACTAG)
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.41244057_41244067delCTAGTATCTTC
CLNSRC	Breast Cancer Information Core (BRCA1) Inc. OMIM Allelic Variant
CLNACC	RCV000019254.14, RCV000048211.5, RCV000131815.4, RCV000159917.2,