rs80357968

minus

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

Make rs80357968(GC;GC)

Reference

GRCh38 38.1/141

Chromosome

17

Position

43092969

Gene

BRCA1

is a	snp
is	mentioned by
dbSNP	rs80357968
dbSNP (classic)	rs80357968
ClinGen	rs80357968
ebi	rs80357968
HLI	rs80357968
Exac	rs80357968
Gnomad	rs80357968
Varsome	rs80357968
LitVar	rs80357968
Map	rs80357968
PheGenI	rs80357968
Biobank	rs80357968
1000 genomes	rs80357968
hgdp	rs80357968
ensembl	rs80357968
geneview	rs80357968
scholar	rs80357968
google	rs80357968
pharmgkb	rs80357968
gwascentral	rs80357968
openSNP	rs80357968
23andMe	rs80357968
SNPshot	rs80357968
SNPdbe	rs80357968
MSV3d	rs80357968
GWAS Ctlg	rs80357968

Max Magnitude

6

rs80357968, also known as 2680insGC, c.2561_2562insGC and p.Ala854?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk	rs80357968(GC;GC)
Alt	rs80357968(GC;GC)
Reference	Rs80357968(-;-)
Significance	Pathogenic
Disease	Familial cancer of breast Breast-ovarian cancer
Variation	info
Gene	BRCA1
CLNDBN	Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed	1
HGVS	NC_000017.10:g.41244987_41244988dupGC
CLNSRC	Breast Cancer Information Core (BRCA1)
CLNACC	RCV000047877.2, RCV000111890.3,