rs80357866

minus

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

Make rs80357866(TGAGA;TGAGA)

Reference

GRCh38 38.1/142

Chromosome

17

Position

43092483

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357866
dbSNP (classic)	rs80357866
ClinGen	rs80357866
ebi	rs80357866
HLI	rs80357866
Exac	rs80357866
Gnomad	rs80357866
Varsome	rs80357866
LitVar	rs80357866
Map	rs80357866
PheGenI	rs80357866
Biobank	rs80357866
1000 genomes	rs80357866
hgdp	rs80357866
ensembl	rs80357866
geneview	rs80357866
scholar	rs80357866
google	rs80357866
pharmgkb	rs80357866
gwascentral	rs80357866
openSNP	rs80357866
23andMe	rs80357866
SNPshot	rs80357866
SNPdbe	rs80357866
MSV3d	rs80357866
GWAS Ctlg	rs80357866

Max Magnitude

6

rs80357866, also known as 3166ins5, c.3047_3048insTGAGA and p.Asn1016?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357866(TGAGA;TGAGA)
Alt	rs80357866(TGAGA;TGAGA)
Reference	Rs80357866(-;-)
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.41244496_41244500dupTCTCA
CLNSRC	Breast Cancer Information Core (BRCA1) OMIM Allelic Variant
CLNACC	RCV000019262.11, RCV000048059.3, RCV000131332.3, RCV000159913.2,